| Sperm meiotic segregation, aneuploidy and high risk of delivering an affected offspring in carriers of non-Robertsonian translocation t(13;15). | |
| | |
MedLine Citation:
|
PMID: 22527900 Owner: NLM Status: MEDLINE |
Abstract/OtherAbstract:
|
PURPOSE: To determine the percentage of unbalanced spermatozoa and an interchromosomal effect in two carriers of balanced translocations t(13;15)(q32;q26) and t(13;15)(q32;p11.2). METHODS: Sperm nuclei analysis by fluorescent in situ hybridization for detection of percentage of unbalanced spermatozoa and sperm with disomy of chromosomes X, Y, 8, 18, 21 and diploidy. RESULTS: The incidence of unbalanced spermatozoa was 50.5 % and 44.6 % in patient 1 (P1) and patient 2 (P2), respectively. Partial disomy of chromosome 13 was detected in 13.4 % and 21.3 % of sperm in P1 and P2, respectively. The unbalanced karyotype der(15)t(13;15) was found previously in a son of P1 and in two adult relatives, and prenatally in the family of P2. This demonstrates a high risk of delivering an affected offspring. Significantly increased frequencies of chromosomes 8, 18, X and XY disomy and diploidy were observed in P2, which might either indicate an interchromosomal effect or be related to his asthenoteratozoospermia. CONCLUSIONS: Since the proportions of unbalanced spermatozoa and the risk of delivering an affected offspring are high, prenatal or preimplantation genetic diagnosis is recommended for such patients. |
| | |
Authors:
|
Katerina Kasikova; Miluse Vozdova; Petra Prinosilova; Renata Gaillyova; Marta Hanakova; Jiri Rubes |
Publication Detail:
|
Type: Case Reports; Journal Article; Research Support, Non-U.S. Gov't Date: 2012-04-21 |
Journal Detail:
|
Title: Journal of assisted reproduction and genetics Volume: 29 ISSN: 1573-7330 ISO Abbreviation: J. Assist. Reprod. Genet. Publication Date: 2012 Jul |
Date Detail:
|
Created Date: 2012-07-23 Completed Date: 2013-01-24 Revised Date: 2013-04-16 |
Medline Journal Info:
|
Nlm Unique ID: 9206495 Medline TA: J Assist Reprod Genet Country: Netherlands |
Other Details:
|
Languages: eng Pagination: 693-8 Citation Subset: IM |
Affiliation:
|
Department of Medical Genetics, University Hospital Brno, 625 00, Brno, Czech Republic. |
Export Citation:
|
APA/MLA Format Download EndNote Download BibTex |
| MeSH Terms | |
Descriptor/Qualifier:
|
Adult Aneuploidy* Chromosome Segregation / genetics* Chromosomes, Human, Pair 13 / genetics Chromosomes, Human, Pair 15 / genetics Humans In Situ Hybridization, Fluorescence Karyotype Male Meiosis Prenatal Diagnosis Spermatozoa / physiology* Translocation, Genetic* |
From MEDLINE®/PubMed®, a database of the U.S. National Library of Medicine
Previous Document: Cumulus cell-oocyte complexes retrieved from antral follicles in IVM cycles: relationship between CO...
Next Document: Reproductive aging is associated with decreased mitochondrial abundance and altered structure in mur...