当前位置： SCI文献检索 > JOURNAL OF ASSISTED REPRODUCTION AND GENETICS期刊下所有文献 > Sperm meiotic segregation, aneuploidy and high risk of delivering an affected offspring in carriers of non-Robertsonian translocation t(13;15).

Sperm meiotic segregation, aneuploidy and high risk of delivering an affected offspring in carriers of non-Robertsonian translocation t(13;15).

Abstract：

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.

journal_name

J Assist Reprod Genet

journal_title

Journal of assisted reproduction and genetics

authors

Kasikova K,Vozdova M,Prinosilova P,Gaillyova R,Hanakova M,Rubes J

doi

10.1007/s10815-012-9767-1

subject

Has Abstract

pub_date

2012-07-01 00:00:00

pages

693-8

issue

7

eissn

1058-0468

issn

1573-7330

journal_volume

29

pub_type

杂志文章

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