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Case Reports
. 2012 Jul;29(7):693-8.
doi: 10.1007/s10815-012-9767-1. Epub 2012 Apr 21.

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

Katerina Kasikova  1 , Miluse Vozdova, Petra Prinosilova, Renata Gaillyova, Marta Hanakova, Jiri Rubes
Affiliations
Case Reports

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

Katerina Kasikova et al. J Assist Reprod Genet. 2012 Jul.

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.

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Figures

Fig. 1
Fig. 1
a Ideograms (G-banding) of normal and rearranged chromosomes 13, 15 with indicated breakpoints b Pedigree of the family of P1 c Pedigree of the family of P2
See this image and copyright information in PMC

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