Identification of a non-fluorescent isodicentric Y chromosome by molecular cytogenetic techniques

The article present the results of retrospectively analyzed children (4424 boys) with mental and psychomotor retardation, congenital malformations and/or developmental micro anomalies. 23 children had various forms of Y chromosome dysomy syndrome. The frequency of this syndrome in the studied cohort was 0.52%; and in this connection the authors discussed the role of Y-chromosome in the origin of mental retardation. Besides, the chromosome instability in sex and somatic cells is supposed to be a common mechanism of different chromosomal anomalies. The authors discussed the possibility of cytogenetic and molecular cytogenetic diagnosis, and also clinical polymorphism of the syndrome. The authors established the necessity of molecular cytogenetic technologies in the diagnosis of different forms of the syndrome, including mosaic forms and isodicentric chromosomes-connected forms. The severity of clinical symptoms doesn’t depend on presence of regular or mosaic forms of the syndrome. The study assumes a possible connection of clinical polymorphism with mosaisism, associated with the presence of abnormal cells (cell lines) in different tissues, together with the role of Y chromosome in the origin of mental retardation in children with Y- chromosome disomy syndrome and other chromosomal anomalies. The authors underline the necessity of molecular cytogenetic diagnosis of different forms of the syndrome for correct medical and genetic consultation.

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Marfan Syndrome with Atypical Presentation: A Case Report

BIRDEM Medical Journal ◽

10.3329/birdem.v4i2.33233 ◽

2014 ◽

Vol 4 (2) ◽

pp. 111-114

Author(s):

Sharmin Mahbuba ◽

Fauzia Mohsin ◽

Rubaiya Islam ◽

Tahmina Begum

Keyword(s):

Case Report ◽

Marfan Syndrome ◽

Autosomal Dominant ◽

Connective Tissue Disorder ◽

Atypical Presentation ◽

Dominant Trait ◽

Autosomal Dominant Trait ◽

Excessive Sweating ◽

Molecular Cytogenetic ◽

Molecular Cytogenetic Techniques

Marfan syndrome is an inherited connective tissue disorder that is transmitted as an autosomal dominant trait. These cases can be diagnosed by molecular cytogenetic techniques. A modified Ghent criteria using systemic scoring system can also identify these cases in absence of molecular cytogenetic techniques.We report a case of a 6 year 5 month old boy who presented with the complaints of excessive sweating sinceinfancy and protrusion of both eye balls which was non progressive since early childhood. On examination, some skeletal features of Marfan syndrome was found and echocardiogram showed huge dilatation of root of aorta which helped in diagnosis by scoring system.Birdem Med J 2014; 4(2): 111-114

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Should Molecular Cytogenetic Techniques Be Applied to Facilitate Single Embryo Transfer in Egg Donation Cases? Assessment of Frequency and Distribution of Embryo Aneuploidy After Anonymous Donor Oocyte IVF

Screening the Single Euploid Embryo ◽

10.1007/978-3-319-16892-0_16 ◽

2015 ◽

pp. 217-229

Author(s):

E Scott Sills ◽

Xiang Li ◽

Daniel A. Potter ◽

Jane L. Frederick ◽

Charlotte D. Khoury

Keyword(s):

Embryo Transfer ◽

Single Embryo Transfer ◽

Egg Donation ◽

Molecular Cytogenetic ◽

Donor Oocyte ◽

Molecular Cytogenetic Techniques

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Molecular Cytogenetic Analysis of Karyotype and Y Chromosome Conservation in Species of the Genus Talpa (Insectivora)

Cytogenetic and Genome Research ◽

10.1159/000507836 ◽

2020 ◽

Vol 160 (5) ◽

pp. 264-271

Author(s):

Juana Gutierrez ◽

Gael Aleix-Mata ◽

Juan A. Marchal ◽

María Arroyo ◽

Riccardo Castiglia ◽

...

Keyword(s):

Sequence Analysis ◽

Y Chromosome ◽

Repetitive Dna ◽

Dna Sequences ◽

Chromosome Painting ◽

Chromosomal Mapping ◽

Repeated Dna ◽

Molecular Cytogenetic ◽

Y Chromosomes ◽

Cytogenetic Analyses

The Talpidae family has a highly stable karyotype. Most of the chromosome studies in this mammal group, however, employed classical cytogenetic techniques. Molecular cytogenetic analyses are still scarce and, for example, no repeated DNA sequences have been described to date. In this work, we used sequence analysis, chromosomal mapping of a LINE1 retroelement sequence, as well as chromosome painting with a whole Y chromosome probe of T. occidentalis to compare the karyotypes of 3 species of the genus Talpa (T. occidentalis, T. romana, and T. aquitania). Our results demonstrate that in Talpa genomes LINE1 sequences are widely distributed on all chromosomes but are enriched in pericentromeric C-band-positive regions. In addition, these LINE1 accumulate on the Y chromosomes of the 3 Talpa species regardless of their euchromatic or heterochromatic condition. Chromosome painting shows that the Y chromosomes in these 3 species are highly conserved. Interestingly, they share sequences with heterochromatic blocks on chromosome pairs 14 and 16 and, to a lesser degree, with the pericentromeric regions of other autosomes. Together, our analyses demonstrate that the repetitive DNA content of chromosomes from Talpa species is highly conserved.

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