Shimon Kusne, M.D.

• Professor of Medicine
• Department of Medicine
• Mayo Medical School
• Chair
• Division of Infectious Diseases
• Department of Medicine
• Mayo Clinic Arizona
• Phoenix, Arizona

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Elucidating the mechanisms of paternal non-disjunction of chromosome 21 in people. Acampomelic campomelic dysplasia with de novo 5q;17q reciprocal translocation and extreme phenotype. The maternal agespecific live start prevalence of trisomies thirteen and 18 compared to trisomy 21 (Down syndrome). De novo proximal duplication of 1(q12q22) in a feminine toddler with a quantity of congenital anomalies. Observation of a parental inversion variant in a uncommon Williams-Beuren syndrome family with two affected youngsters. Complete trisomy 1q with mosaic Y;1 translocation: A recurrent aneuploidy presenting diagnostic dilemmas. Maternal uniparental disomy of chromosome 16 (upd(16) mat): Clinical options are somewhat caused by (hidden) trisomy sixteen mosaicism than by upd(16) mat itself. Success of testicular sperm extraction and intracytoplasmic sperm injection in males with Klinefelter syndrome. No proof for a paternal interchromosomal impact from evaluation of the origin of nondisjunction in Down syndrome sufferers with concomitant familial chromosome rearrangements. Long-term follow-up of four sufferers with Langer-Giedion syndrome: Clinical course and problems. Report and abstracts of the fourth worldwide workshop on human X chromosome mapping 1993. Monosomy 19pter and trisomy 19q13-qter in two siblings arising from a maternal pericentric inversion: Clinical information and molecular characterization. Arrest of human oocytes during meiosis I in two sisters of consanguineous mother and father: First evidence for an autosomal recessive trait in human infertility: Case report. Functional disomies of the X chromosome affect the cell choice and hence the X inactivation pattern in females with balanced X-autosome translocations: A evaluation of 122 circumstances. Branchio-otic syndrome caused by a genomic rearrangement: Clinical findings and molecular cytogenetic research in a patient with a pericentric inversion of chromosome eight. The centromeric 11p15 imprinting centre can be concerned in Silver-Russell syndrome. Pericentric inversion of the X chromosome: Presentation of a case and evaluate of the literature. Relative quantification of 40 nucleic acid sequences by multiplex ligationdependent probe amplification. A 3p interstitial deletion in two monozygotic twin brothers and an 18-year-old man: Further characterization and evaluate. Predictive diagnosis of the most cancers susceptible LiFraumeni syndrome by accident: New challenges via entire genome array testing. Constitutional 11p15 abnormalities, including heritable imprinting center mutations, cause nonsyndromic Wilms tumor. Comprehensive chromosome screening is very predictive of the reproductive potential of human embryos: A potential, blinded, nonselection examine. Blastocyst biopsy with comprehensive chromosome screening and recent embryo switch considerably will increase in vitro fertilization implantation and delivery rates: A randomized controlled trial. Chromosome translocations: Segregation modes and methods for preimplantation genetic diagnosis. Abnormal villous morphology mimicking a hydatidiform mole associated with paternal trisomy of chromosomes 3,7,8 and unipaternal disomy of chromosome 11. Constitutional trisomy eight as first mutation in multistep carcinogenesis: Clinical, cytogenetic, and molecular data on three cases. Risk for congenital anomalies in offspring of childhood, adolescent and younger adult most cancers survivors. Nuchal translucency thickness and outcome in chromosome translocation diagnosed in the first trimester. Clinicoradiological and molecular characterization of a kid with ring chromosome 2 presenting growth failure, microcephaly, kidney and mind malformations.

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Chen, Vapor-based multicomponent coatings for antifouling and biofunctional synergic modifications, Adv. Hockberger, A versatile technique for patterning biomolecules onto glass coverslips, J. Hermanson, Chapter 13 � Silane Coupling Agents, Bioconjugate Techniques, third ed. Weetall, Preparation of immobilized proteins covalently coupled via silane coupling agents to inorganic helps, Appl. Chmielewski, the "clickable" method for oligonucleotide immobilization onto azide-functionalized microarrays, in: P. Blank, Thiol-based, site-specific and covalent immobilization of biomolecules for single-molecule experiments, Nat. Revzin, using glass substrates with bi-functional silanes for designing micropatterned cell-secreted cytokine immunoassays, Biomaterials 32 (23) (2011) 5478�5488. Tripp, Method to double the surface concentration and management the orientation of adsorbed (3-aminopropyl)dimethylethoxysilane on silica powders and glass slides, Langmuir 18 (17) (2002) 6623�6627. Hyt�nen, Improved antifouling properties and selective biofunctionalization of chrome steel by employing heterobifunctional silane-polyethylene glycol overlayers and avidin-biotin know-how, Sci. Liu, Site-directed immobilization of antibodies onto blood contacting grafts for enhanced endothelial cell adhesion and proliferation, Soft Matter 7 (16) (2011) 7207�7216. Becker, "Click" reactions: a flexible toolbox for the synthesis of peptide-conjugates, Chem. Chaikof, Carbohydrate and protein immobilization onto strong surfaces by sequential Diels-Alder and azide-alkyne cycloadditions, Bioconjug. Linhardt, Clickcoated, heparinized, decellularized vascular grafts, Acta Biomater. Jorgensen, Catalytic uneven hetero-Diels-Alder reactions of carbonyl compounds and imines, Angew. Sharpless, Comparison of amine additives handiest in the new methyltrioxorhenium-catalyzed epoxidation process, Tetrahedron Lett. Fernandez-Megia, Reliable and efficient procedures for the conjugation of biomolecules via huisgen azide-alkyne cycloadditions, Angew. Caldwell, Chemical modification of floor active poly(ethylene oxide)-poly (propylene oxide) triblock copolymers, Bioconjug. Hubbell, Human endothelial cell interactions with surface-coupled adhesion peptides on a nonadhesive glass substrate and two polymeric biomaterials, J. Functionalized cardiovascular stents: Cardiovascular stents integrated with stem cells B. As the final word success in the transplantation of engineered organ/device resides in the immunological acceptance of the product by the host, decreasing the rejection of the transplanted organ/device by the body immune system remains a significant problem in the tissue engineering area. The mean diameter of nanofibers ranges from 50 to 500 nm [3], and nanofibers have the next floor to quantity ratio, which offers an ample house for cell loading [4,5]. Owing to these versatile properties, nanofibers have been deemed as one of the biocompatible formulations, further guaranteeing its software to cardiovascular tissue engineering. Recently, the applying of stem cell for regenerative medication has received an elevated consideration from interdisciplinary fields together with biotechnology, materials science, engineering, and even pharmaceutical science [6�9]. Stem cell therapy is an intervention strategy that introduces new grownup stem cells into broken organ/tissue to deal with pathological situations without immune rejection. However, most stem cell applications have to figure out the way to control the specialised property, by which stem cells have pluripotency to differentiate into tissue/organ in response to the specific signal from a microenvironment. As stem cells hardly survive in the physique under the harsh conditions, such as hypoxia or enzymatic degradation, huge efforts have been positioned in growth of novel biomaterial, which not solely mimics extracellular three-dimensional matrix in cardiovascular tissue regeneration, but additionally enhances in vivo stability of stem cells. The viable approaches for growth of novel biomaterial include hypoxic preconditioning, genetic modification, drug combination, and nanofibers releasing biomolecules [10]. This review will surely help the readers comprehensively perceive nanofiber-mediated stem cell therapy within the cardiovascular illnesses. Foam cells derived from macrophage necrosis are recognized to be associated with the initial stage of atherosclerosis [13]. M1 macrophages launched pro-inflammatory cytokines and reactive oxygen or nitrogen species that would worsen oxidative stress in plaque lesion [16]. M2 macrophages (also known as alternatively activated macrophages), on the opposite hand, are immunosuppressive and resolve plaque inflammation [17]. Histological evaluation of human plaques demonstrated that M1 macrophages are enriched in lipids and localized to inflammatory areas which might be distinct from these in which M2 macrophages are localized [18].

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Although new coating approach may have introduced numerous advantages past conventionalcoating strategies, the long-term statement continues to be essential to validate its efficiency. It was demonstrated that nanofibers loaded with stem cells could be utilized for the treatment of cardiovascular ailments including atherosclerosis and cardiomyocyte regeneration. The modification of cell-carriers with organic cues, which give rapid differentiation of stem cells into a particular lineage and protect stem cells underneath the tough situations. The stem cell method could accomplish this task by decreasing immune rejection and facilitating speedy differentiation in concentrating on lineage. The upkeep of biocompatibility of various cells loaded on nanofiber scaffold may furnish an integral array of physical and biochemical alerts in a spatial and temporal method. The preconditioning of nanofiber via the surface modification technique accelerates differentiation, attachment, and proliferation of stem cells. Ramakrishna, Interaction of cells and nanofiber scaffolds in tissue engineering, J. Ko, Electrospun nanofibrous construction: a novel scaffold for tissue engineering, J. George, Exploring and engineering the cell floor interface, Science 310 (2005) 1135�1138. Kawahara, Stem cell remedy for cerebral ischemia: from primary science to scientific functions, J. Andersson, Stem cell remedy ameliorates bladder dysfunction in an animal model of Parkinson disease, J. Kao, Cell encapsulating biomaterial regulates mesenchymal stromal/stem cell differentiation and macrophage immunophenotype, Stem Cells Transl. Lee, Effects of natural cartilaginous extracellular matrix on chondrogenic potential for cartilage cell transplantation, Transplant. Functionalized cardiovascular stents: Cardiovascular stents integrated with stem cells 277 [14] K. Tabas, Macrophages in the pathogenesis of atherosclerosis, Cell a hundred forty five (2011) 341�355. Hansson, Progress and challenges in translating the biology of atherosclerosis, Nature 473 (2011) 317�325. Laskin, Macrophages and inflammatory mediators in chemical toxicity: a battle of forces, Chem. Lehrer-Graiwer, Anti-inflammatory strategies for plaque stabilization after acute coronary syndromes, Curr. Marcel, Autophagy regulates ldl cholesterol efflux from macrophage foam cells through lysosomal acid lipase, Cell Metab. Martinet, Autophagy in atherosclerosis: a possible drug target for plaque stabilization, Arterioscler. De Meyer, Drug-induced macrophage autophagy in atherosclerosis: for better or worse Tabas, Macrophage autophagy plays a protective role in superior atherosclerosis, Cell Metab. Tabas, Macrophage demise and defective irritation resolution in atherosclerosis, Nat. Xu, Abundant progenitor cells within the adventitia contribute to atherosclerosis of vein grafts in ApoEdeficient mice, J. Xu, Both donor and recipient origins of smooth muscle cells in vein graft atherosclerotic lesions, Circ. Ye, Functional role of 278 Functionalized Cardiovascular Stents [34] [35] [36] [37] [38] [39] [40] [41] [42] [43] [44] [45] [46] [47] [48] [49] matrix metalloproteinase-8 in stem/progenitor cell migration and their recruitment into atherosclerotic lesions, Circ. Pasceri, Role of endothelial progenitor cells in restenosis and progression of coronary atherosclerosis after percutaneous coronary intervention: a potential examine, J. Ge, Transfer of bone-marrow-derived mesenchymal stem cells influences vascular transforming and calcification after balloon harm in hyperlipidemic rats, J. Mei, Biological characteristics of froth cell formation in clean muscle cells derived from bone marrow stem cells, Int.

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Presence of these cells on the floor offers a fantastic potential to increase biocompatibility of the stents. These methods make the most of precoating methods with polymers or proteins to help the adhesion of cells to the stent floor [6,7]. Recently, a very promising method has been proposed in stent know-how, which includes substances that speed up endothelialization [8]. The appropriate sites for covalent binding of proteins to the stent surface are offered by useful teams such as hydroxyl, amino, thiol, carboxyl, aldehyde, or isocyanate. Further modification of practical groups earlier than immobilization results in much more effective reactions [11]. For metallic samples, plasma polymerization approach has been applied for efficient covalent protein attachment [12,13]. Surfaces modified with plasma and coated with proteins have offered improved blood biocompatibility, significantly lowered blood clogging, and enhanced endothelialization [1]. The functionalization methods discussed in more particulars in this chapter concern stents made from stainless-steel. Various polymers have been examined, among them polyurethane [20], polyethylene terephthalate [21], polysiloxane [22]. Although in case of these polymers a lower of blood coagulation on the polymers-coated stent floor was stated, the discount of cell proliferation was not observed comparing to the stent with no polymer coating. Natural polymers first introduced by Holmes and Baker [23,24] have been applied till now in stent expertise [25,26]. Heparin is a extensively used material in stent-coating know-how [28�30] primarily because of the presence of ionic group in the construction. The antiproliferative drugs can be trapped or bonded into polymer-coated stents and delivered to arterial wall. This is adopted by cascade response and eventual coagulation of blood and Physico-chemical stent surface modifications Table 7. The stent surface was coated with titanium oxide using ion beam-enhanced deposition method. The semiconducting nature of the titanium oxide films was demonstrated to play an necessary role within the reduction of platelets adhesion. Thanks to this property, deposition of fibrinogen could probably be inhibited, leading to improved compatibility of stents. Their additional work [37] indicated floor energy as another meaningful factor in the interplay between blood and stent floor. The results demonstrated that decrease interface rigidity between titanium oxide movies and proteins, as well as semiconducting nature of the films, contributed significantly to an increased biocompatibility 7. Work of Hehrlein [40] and Schwartz [41] advised effectivity and security of the gold-modified surfaces. However, analysis of Kastrati [42] demonstrated an increased danger of restenosis after stent implantation. These contradictory outcomes might be explained by the completely different strategies used for gold coating [43,44]. However, the long time wanted for cell culture and financial aspect are limiting factors in utilizing this methodology as frequent practise. The antibodies immobilized in an oriented way showed higher immunologic binding exercise and progenitor cell capturing functionality when compared to randomly immobilized ones. Employing scFvs rather than whole immunoglobulin molecules results in considerably increased detection sensitivities. In our previous work [55], we introduced a way for stent floor functionalization utilizing antibody fragments. The titania-coated stainless-steel stent surface was functionalized with amine teams, then glycosylated antibody fragments specific towards vascular endothelial development factor were immobilized. Sols have been ready with using titanium ethoxide, ethanol, triton X-100, and hydrochloric acid for acidic hydrolysis at pH = 2. Spectrum B, however, is barely shifted evaluating to spectrum A; moreover, the ratio of each band is totally different. The common tendency in cell growth after 48 h is maintained with slight changes of bar ratios.

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Molecular and cytogenetic evaluation of a patient with ring chromosome 13 and discordant results. A modified embryogenic mannequin to explain embryonic/ extraembryonic chromosomal inconsistencies. Chromosome 18q paracentric inversion in a family with mental retardation and hearing loss. A proposal for reproductive counselling in carriers of Robertsonian translocations: 10 years of expertise with preimplantation genetic analysis. Complex chromosomal rearrangements in infertile males: Complexity of rearrangement affects spermatogenesis. Molecular and clinical characteristics of 26 circumstances with structural Y chromosome aberrations. Molecular genetic and cytogenetic characterization of a partial Xp duplication and Xq deletion in a affected person with untimely ovarian failure. Robertsonian translocations: Mechanisms of formation, aneuploidy, and uniparental disomy and diagnostic considerations. A novel technique for detecting uniparental disomy from trio genotypes identifies a significant excess in kids with developmental problems. Famili�res blasenmolen-syndrom und genetische aspekte dieser gest�rten trophoblastentwicklung. Meiotic recombination, synapsis, meiotic inactivation and sperm aneuploidy in a chromosome 1 inversion carrier. A comparison of sperm aneuploidy rates between infertile men with regular and irregular karyotypes. Characterization of a prenatally assessed de novo supernumerary minute ring chromosome 20 in a phenotypically regular male. Effect of balanced X/autosome translocations on sexual and physical growth: A private expertise in 4 sufferers. Trisomy 8 mosaicism in chorionic villus sampling: Case report and counselling issues. Prenatal prognosis of a karyotypically normal being pregnant in a mom with a supernumerary neocentric 13q2113q22 chromosome and balancing reciprocal deletion. Perfect endings: A evaluation of subtelomeric probes and their use in medical analysis. A 600 kb triplication in the cat eye syndrome important area causes anorectal, renal and preauricular anomalies in a three-generation household. Prenatal prognosis of mosaic ring 22 duplication/deletion with terminal 22q13 deletion as a result of abnormal first trimester screening and choroid plexus cyst detected on ultrasound. An surprising discovering in a child with neurological problems: Mosaic ring chromosome 18. Genetic counseling for males with recurrent being pregnant loss or recurrent implantation failure as a outcome of irregular sperm chromosomal aneuploidy. An unexpected recurrence of Angelman syndrome suggestive of maternal germline mosaicism of del(15)(q11q13) in a Finnish family. Analysis for microdeletions of Y chromosome in a single spermatozoon from a man with extreme oligozoospermia. The earliest description of an autopsy on a case of Roberts syndrome reported in 1672: Some additions. Cytogenetic evaluation after analysis of 750 fetal deaths: Proposal for diagnostic workup. De-novo balanced translocation between 7q31 and 10p14 in a girl with central precocious puberty, average psychological retardation, and extreme speech impairment. Mosaic supernumerary ring chromosome 1 in a three-generational household: 10year follow-up report. Maternal isochromosome 7q and paternal isochromosome 7p in a boy with progress retardation. Germ-line transmission of trisomy 21: Data from 80 households counsel an implication of grandmaternal age and a high frequency of femalespecific trisomy rescue. Somatic/gonadal mosaicism for structural autosomal rearrangements: Female predominance among carriers of gonadal mosaicism for unbalanced rearrangements. Under-ascertainment of mosaic carriers of balanced homologous acrocentric translocations and isochromosomes.

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Not each lady will reply "rationally" to an increased-risk interpretation, based on the view of rationality as seen by the providers of the screening program. Those who enter right into a screening program with out being correctly conscious of the implications might discover themselves "in an untenable situation-anxious about a optimistic outcome, however unwilling to incur the risks of diagnostic testing" (Kuppermann et al. Depressive symptoms, and thus a lowered capacity to make clear decisions, could also be exacerbated in those with a predisposition, and Hippman et al. More current reports have been rather more encouraging, suggesting that, latterly, these delivering the screening have gotten extra expert in advising their sufferers (Okun et al. For those that are higher informed, understanding is by no means a impartial matter, and Rapp (1999) refers to the role of ladies as "ethical pioneers," in coming to phrases with the ethical issues that readily available screening might, in these modern times, current. It is a nice matter to judge what should be the extent and tone of the data. Prenatal diagnosis started to be out there from about 1969; the average maternal age also started to improve from this time. The rising precision of screening has led to a reduction within the number of invasive procedures being carried out. With fewer invasive checks being carried out, the question has been raised of the way to keep coaching and competency of obstetric sonologists, in opposition to this falling procedural load (Hui et al. Otherwise, a mid-trimester ultrasound examination is, in fact, a routine a part of normal obstetric administration. The discovery of a fetal malformation, in the center of a routine ultrasound, is a standard indication for a fetal chromosome research. In Victoria, Australia, for example, approximately 20% of prenatal chromosome tests in 2013 had been done on the grounds of ultrasound findings of a fetal malformation or of a marker of aneuploidy (Hui et al. The acardiac fetus is commonly due to an in any other case unsurvivable autosomal trisomy, presumably tempered by mosaicism with a normal cell line, but their existence being maintained by a (karyotypically normal) monozygous co-twin (the "pump twin"). Certain renal defects have a frequent association with fetal aneuploidy, as do cardiac malformations typically (Amor et al. Up to one-third of coronary heart defects are associated with fetal aneuploidy, though in most there will be additional anomalies; within the case of an isolated cardiac defect, microarray will detect a chromosome abnormality in 10% (SukenikHalevy et al. On the precise query of uncommon autosomal abnormalities detected by standard karyotyping (rare trisomies, deletions, duplications, supernumerary markers, numerous different structural rearrangements), a large European collection based upon reviews from malformation registers in a quantity of jurisdictions linked ultrasound findings to cytogenetic outcomes (Baena et al. Nearly half of all uncommon autosomal abnormalities showed fetal anomalies on ultrasonography, with coronary heart and mind defects and progress retardation extra typically seen with deletions, and cystic hygroma, hydrops, and nuchal translucency extra typically related to trisomies and duplications. These rare abnormalities comprised 7% of all chromosomally abnormal prenatal diagnoses. In which circumstances ought to a chromosome evaluation be carried out, following the invention of structural anomalies by ultrasound examination The karyotype was irregular in 9% of instances with an isolated malformation, and in 19% of circumstances with multiple malformations. The abnormal karyotypes included trisomies 13, 18, 21, triploidy, 45,X and mosaics, varied autosomal and gonosomal duplications and deletions, rare trisomies, and de novo apparently balanced rearrangements. The more exact device of chromosome microarray offers a substantial further yield above that which is detected by standard karyotyping. When the ultrasound abnormality was confined to one system, the yield of microarray was 5. In the event of a twin being pregnant having been proven on ultrasonography, the query arises of an appropriate prenatal diagnostic process, if that is considered applicable. Trisomy 21 does stay, for most ladies and couples, the prime concern-the situation that most people are conscious of- but with the sophistication of twenty-first century technology, the great majority of chromosomal imbalances are, in principle, diagnosable. Noninvasive prenatal testing-no greater than a blood test for the woman- widens access and increases uptake very considerably. Routine fetal ultrasonography can detect quite refined malformation, and genetic testing will typically comply with such a discovery. The counselor can count on to deal with a broad spectrum of chromosomal abnormality, presenting in the prenatal clinic. Outlines of the clinical penalties of these abnormalities observe, to serve as a basis for the decisions that these women and couples must make.

Diseases

• Phocomelia contractures absent thumb
• Brachyd
• Achalasia
• Angiosarcoma of the scalp
• Inborn error of metabolism
• Opticoacoustic nerve atrophy dementia
• Macrocephaly short stature paraplegia
• Epimetaphyseal skeletal dysplasia

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She may have been the outcomes of monosomic rescue, and her son as a result of trisomic rescue! Either may be seen in the setting of a normal karyotype, or with a Robertsonian translocation (or "acrocentric isochromosome"). A balanced forty five,der(13;14) Robertsonian translocation might reflect correction of an initially forty six,der(13;14),+14 conception, whereas the 45,der(14;14) case might actually outcome from a 45,�14 conception which then corrected by reduplication of the only chromosome 14 to give an i(14q) with isodisomy. Isodisomy could also be current within the setting of a standard karyotype, and it might thus be less uncommon than is appreciated (Chu et al. The syndrome is characterised by pre- and postnatal progress retardation, small palms and ft, early puberty, subtle dysmorphism, mildly decreased mental capacity, and, in approximately half of patients, weight problems. Loss is mostly because of a easy interstitial deletion ("classical deletion"). Nonfunctioning of (structurally normal) genes within 15q11q13 is due to the imprint status. The 15q11q13 Imprinting Center Normal persons have one paternally imprinted chromosome 15 and one maternally imprinted chromosome 15. Vice versa, paternal gametogenesis serves to effect a maternalpaternal change, or to retain a paternal standing, on the chromosome 15 that the sperm contributes to the embryo. In consequence, a quantity of genes under its aegis are able to perform, partially at least, by being demethylated. These epigenetic modifications function solely in cis, and so the maternal and paternal chromosomes continue to operate autonomously, with their totally different repertoires of expression, in the course of the life of the person. Nonallelic homologous recombination between the distal and whichever proximal duplicon then causes the deletions (Ji et al. There could also be an additional effect from the concomitant imbalance involving the other chromosome of a translocation, such because the case in Torisu et al. This is an efficient instance of a easy dosage impact: One copy of the P gene = pale pores and skin, two copies = regular pigmentation, three copies = hyperpigmentation. Similarly, a familial nonhomologous Robertsonian translocation in which one of many part chromosomes is a no. This may be regarded as an act of fee: the mother inappropriately applies a paternal imprint to the chromosome 15, or fails to reset her paternal chromosome 15 that she passes to the kid; or (since some maternal epimutations are mosaic) the error may happen postzygotically. The lack of ability to reset an acceptable imprint standing leads to the "fixation of an ancestral epigenotype" (Saitoh et al. Only a handful of cases have been recognized worldwide (Hassan and Butler 2016; Horsthemke and Buiting 2006). He is normal, since an erased paternal imprint on his maternal chromosome is, naturally, right. The deletion might have originated in his mom, or antecedent to her, provided transmission had been completely matrilineal. If the kid receives this chromosome 15 from the mother, each homologs carry a paternal imprint. Two such Japanese families, independently ascertained and reported, had exactly the same 1. This gene is expressed from each parental chromosomes in some tissues, but, within the brain, from only the maternal chromosome. In a mouse knockout model, Ube3a expression was compromised in certain cells of the hippocampus, a vital structure in studying and reminiscence, and of the cerebellum, which can have a task in studying in addition to its traditional function in coordination (Albrecht et al. The mutation transmitted by the daddy has no effect in his child since this chromosome 15 area would in any event carry a paternal imprint and be silenced. Note that all the affected children are born to service moms, however that these moms are related to each other by way of the male line. The usual rare threat from isozygosity for a recessive gene applies, as exemplified in Wattanasirichaigoon et al. A recessive etiology was suspected in a woman with developmental delay, microcephaly, and seizures, in whom mat upd(17) was recognized by exome sequencing, although no definite causative mutation was found (King et al. The healthy youngster received two recombinant chromosomes 18, from the mother a by-product chromosome 18 with dup(18p)/del(18q), and from the daddy a derivative chromosome 18 with dup(18q)/del(18p). Features present in all cases are intrauterine progress restriction, brief stature, and outstanding feeding difficulties with failure to thrive, regularly needing tube feeding. Intrauterine development retardation, if present, might more likely replicate the affect of a trisomic 22 placenta, or low-level "occult" mosaicism of the fetus (Balmer et al.

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Fluorescence in situ hybridization sperm evaluation of six translocation carriers provides evidence of an interchromosomal impact. Female chromosome X mosaicism is age-related 640 � and preferentially impacts the inactivated X chromosome. Preimplantation genetic prognosis for a carrier of a Y;autosome translocation resulting in a wholesome male offspring. Reproductive risks for paracentric inversion heterozygotes: Inversion or insertion Recombination in a balanced advanced translocation of a mother leading to a balanced reciprocal translocation within the youngster: Review of 60 instances of balanced advanced translocations. Familial inv(X) (p22q22): ovarian dysgenesis in two sisters with del Xq and fertility in a single male provider. Prenatal prognosis of two totally different unbalanced types of an inherited (Y;12) translocation. A reassessment of biochemical marker distributions in trisomy 21-affected and unaffected twin pregnancies within the first trimester. De novo direct duplication 2 (p12p21) with paternally inherited pericentric inversion 2p11. Cytogenetic and molecular characterization of a recombinant X chromosome in a family with a extreme neurologic phenotype and macular degeneration. Complete hydatidiform mole and regular reside birth: A novel case of confined placental mosaicism: case report. Screening efficiency of first-trimester nuchal translucency for main cardiac defects: A meta-analysis. Unusual duplication in the pericentromeric region of chromosome 9 in a patient with phenotypic alterations. Interpreting mosaicism in chorionic villi: Results of a monocentric sequence of 1001 mosaics in chorionic villi with follow-up amniocentesis. Proteomic profile dedication of autosomal aneuploidies by mass spectrometry on amniotic fluids. Array-based technology and suggestions for utilization in medical genetics apply for detection of chromosomal abnormalities. Characterization of 23 small supernumerary marker chromosomes detected at pre-natal diagnosis: the value of fluorescence in situ hybridization. Partial trisomy 2p and partial monosomy 2q arising from a paternal intrachromosomal 2q-into-2p betweenarm insertion and paracentric inversion: Molecular cytogenetic characterization of a four-break rearrangement. Meiotic and mitotic behaviour of a ring/deleted chromosome 22 in human embryos decided by preimplantation genetic diagnosis for a maternal provider. A new case of a complex small supernumerary marker chromosome: A der(9)t(7;9)(p22;q22) as a outcome of a maternal balanced rearrangement. A chromosome 17q de novo paracentric inversion in a affected person with campomelic dysplasia: Case report and etiologic speculation. Pitt-Hopkins syndrome and differential analysis: A molecular and medical problem. Childhood apraxia of speech with out intellectual deficit in a patient with cri du chat syndrome. Prenatal diagnosis utilizing cell-free nucleic acids in maternal body fluids: A decade of progress. Counselling following diagnosis of a fetal abnormality: the differing approaches of obstetricians, medical geneticists, and genetic nurses. Outcomes of pregnancies diagnosed with Klinefelter syndrome: the potential affect of health professionals. Detection of chromosomal aberrations in clinical practice: From karyotype to genome sequence. New peak, weight and head circumference charts for British children with Williams syndrome. Sperm chromosome analysis in a man heterozygous for a paracentric inversion of chromosome 7 (q11q22). Sperm chromosome evaluation in a person heterozygous for a paracentric inversion of chromosome 14 (q24. Chromosome analysis of spermatozoa extracted from testes of males with non-obstructive azoospermia.

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Maternal uniparental heterodisomy of chromosome 17 in a patient with nephropathic cystinosis. Mosaic trisomy 22-Five new cases with variable outcomes: Implications for genetic counselling and scientific administration. Prenatal analysis of a familial complex chromosomal rearrangement involving chromosomes 5, 10, 16 and 18. Clinical validation of a noninvasive prenatal test for genomewide detection of fetal copy quantity variants. Stable dicentric duplication-deficiency chromosome 14 resulting from crossing-over inside a maternal paracentric inversion. Cytogenetic and molecular research of a jumping translocation in a child with Dandy-Walker malformation. Prenatal screening for Down syndrome: A survey of willingness in ladies and household physicians to interact in shared decision-making. Extreme heterogeneity in the molecular occasions resulting in the institution of chiasmata throughout meiosis I in human oocytes. Diploid/tetraploid/ t(1;6) mosaicism in a 17-year-old female with hypomelanosis of Ito, multiple congenital anomalies, and physique asymmetry. The 2q37deletion syndrome: An update of the clinical spectrum including obese, brachydactyly and behavioural features in 14 new patients. Phenotypic and genotypic variability in monozygotic triplets with Turner syndrome. Comparative genomic hybridization: A new method to screening for intrauterine full or mosaic aneuploidy. Genomic imbalance in products of conception: Singlenucleotide polymorphism chromosomal microarray evaluation. A prenatally recognizable malformation syndrome associated with a recurrent post-zygotic chromosome rearrangement der(Y)t(Y;1) (q12:q21). Clinical application of whole-genome low-coverage next-generation sequencing to detect and characterize balanced chromosomal translocations. Pregnancy consequence following prenatal prognosis of sex chromosome abnormalities in Mainland China. Prenatal analysis of intercourse chromosome aneuploidies: Experience at a mainland Chinese hospital. Supernumerary ring chromosome 7 mosaicism: Case report, investigation of the gene content, and delineation of the phenotype. Report on a consecutive sequence of 581 youngsters born after blastomere biopsy for preimplantation genetic prognosis. Comprehensive mapping of long-range interactions reveals folding ideas of the human genome. Uniparental disomy-Clinical penalties due to imprinting and activation of recessive genes. A healthy live start after profitable preimplantation genetic analysis for carriers of complex chromosome rearrangements. Estimation of chromosomal imbalances in preimplantation embryos from preimplantation genetic analysis cycles of reciprocal translocations with or without acrocentric chromosomes. Clinical and molecular genetic options of BeckwithWiedemann syndrome associated with assisted reproductive technologies. Mapping the soundness of human mind asymmetry across five sexchromosome aneuploidies. Fifty-one prenatally diagnosed children and adolescents with sex chromosome abnormalities. Muscular dystrophy in an X;1 translocation female means that Duchenne locus is on X chromosome brief arm. The prevalence of translocations in parents of youngsters with regular trisomy 21: A potential interchromosomal effect Molecular and medical characterization of sufferers with overlapping 10p deletions.

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A small impact indicating a predisposition to aneuploidy recurrence was discernible in Warburton et al. A tentative conclusion from the foregoing is that a fraction of recurrent abortion may be explained by a predisposition to recurrent aneuploidy, and that this effect is extra of an issue in youthful women. When the cause is unknown, every being pregnant loss merits cautious evaluate to determine whether or not particular analysis may be applicable. Within every medical category, distinction is made between women youthful than age 37 years and people age 37 years or older. The charges of aneuploidy for chromosomes sixteen and 22 show the most notable differences between the two cohorts, roughly two- to threefold, across each age teams. For the opposite autosomes (13, 18, 21), the marked differences are confined to the women <37 years. The comparison cohort comprised women having preimplantation genetic diagnosis for X-linked Mendelian conditions. The probable reason, in such circumstances, is that a chromosomally regular miscarriage mirrored an underlying maternal factor that may apply to all pregnancies, whereas aneuploidy at least provides the hope that better fortune would possibly attend the following ovulation. In about 5% of all couples suffering two or extra fetal losses, one of the partners carries a balanced chromosomal rearrangement, which represents an approximate eightfold increase compared with the general inhabitants (Fryns and Van Buggenhout 1998; Celep et al. These chromosomal rearrangements are usually of enough dimension to be readily detectable at standard karyotyping; and usually of adequate dimension that imbalanced combos will lead, very regularly, to inevitable miscarriage. Cryptic translocations can be related to a risk for miscarriage (Diego-Alvarez et al. The danger for miscarriage will depend on the actual characteristics of the rearrangement. In contrast, the danger for a viable unbalanced form may be very low in this group (Barber et al. As well as translocations and different autosomal rearrangements, sex chromosome abnormalities may be recognized in couples presenting with recurring being pregnant loss. Table 19�4 sets out the karyotypes seen in a Portuguese clinic inhabitants (Kiss et al. Although this was a small collection, the unfold and prevalence of chromosome abnormalities is sort of just like the findings at infertility investigation (cf. X or Y rcp with autosome Autosomal Simple rcp Mosaic rcp Complex rcp rob inv (pericentric) Structural abn. Cytogenetics of Infertility Infertility is defined as the inability to obtain conception. It is price emphasizing that infertility is to be seen in the context of the couple, not necessarily of the people separately. An eleven Definition from the American Society for Reproductive Medicine (2008): "Infertility is a disease, defined by the failure to achieve pregnancy after 12 months or more of regular unprotected intercourse. Earlier evaluation and therapy may be justified based mostly on medical history and physical findings, and is warranted after 6 months for ladies over age 35 years. Some of these couples might be permanently infertile, some shall be "subfertile," and nonetheless others might merely be "unlucky. The reciprocal translocation (especially when an acrocentric is involved) and the inversion could additionally be related, although infrequently, with severe hypospermatogenesis and reasonable to severe oligospermia (Chapters 5 and 9). Robertsonian translocations are occasionally associated with infertility within the male or, less typically, the feminine (Chapter 7). Translocation between a sex chromosome and an autosome is a hardly ever recognized cause of infertility (Chapter 6). Complex rearrangements (Chapter 10) and rings (Chapter 11) usually current an insurmountable impediment to cell division within the spermatocyte, resulting in azo�spermia; o�genesis is extra robust. The frequency of karyotypic abnormality in couples with infertility depends significantly upon the criteria of ascertainment, and quite broad ranges of figures have been produced. The abnormalities included numerical and structural intercourse chromosome abnormalities, reciprocal and Robertsonian translocations, inversions, and different structural abnormality (Table 19�5). The French group in contrast their own information with these of 10 different comparable sequence, deriving consensus figures of approximately 5%�6% and 4%�5% for female and male karyotypic abnormality, respectively. Considering just autosomal translocations, and in relation to the character of the infertility, Stern et al.

References

• Landbo C, Prescott E, Lange P, et al. Prognostic value of nutritional status in chronic obstructive pulmonary disease. Am J Respir Crit Care Med 1999; 160: 1856-1861.
• Dinneen MD, Duffy PG, Barratt TM, et al: Persistent polyuria after posterior urethral valves, Br J Urol 75(2):236n240, 1995.
• Miller KD, Loehrer PJ, Gonin R, et al: Salvage chemotherapy with vinblastine, ifosfamide, and cisplatin in recurrent seminoma, J Clin Oncol 15:1427n1431, 1997.
• Zeng C, et al. Functional genomics of the dopaminergic system in hypertension. Physiol Genomics. 2004;19(3):233-246.
• Ferguson C: Principles of transitional care for young people with longstanding continence problems, Nurs Times 106(47):10n12, 2010.
• Evers J, Eichelbaum M, Kroemer HK. Unpredictability of flecainide plasma concentrations in patients with renal failure: relationship to side effects and sudden death? Ther Drug Monit 1994;16(4):349-351.
• Naldini G. Serious unconventional complications of surgery with stapler for haemorrhoidal prolapse and obstructed defecation due to rectocele and rectal intussusception. Colorectal Dis 2011;13(3):323-7.