Am J Med Genet. 1992 Jul 15;43(5):855-7. doi: 10.1002/ajmg.1320430520.

Analysis of sperm chromosome complements from a man heterozygous for a robertsonian translocation 45,XY,t(15q;22q).

American journal of medical genetics

R H Martin, E Ko, K Hildebrand

PMID: 1642275 DOI: 10.1002/ajmg.1320430520

Abstract

Chromosome complements were studied in 118 sperm from a man heterozygous for a 15;22 Robertsonian translocation using the human sperm/hamster oocyte fusion technique. Alternate segregation occurred in most spreads (89.6%) and the proportion of normal (42.6%) and balanced complements (47%) was approximately equal. The frequency of sperm that were unbalanced with respect to the translocation was 10.4% and all categories of unbalanced sperm were observed (-15, -22, +15, +22). The frequency of chromosome abnormalities unrelated to the translocation was 7.6%. Since the frequencies of both numerical (3.4%) and structural abnormalities (3.4%) were within the normal range of control donors, there was no evidence for an interchromosomal effect. The frequencies of X-chromosome bearing (48%) and Y-chromosome bearing (52%) sperm were not significantly different from 50%. Data on this translocation were compared to the 4 other reports of cytogenetic analysis in sperm of Robertsonian translocation carriers.

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MeSH terms

• Adult
• Chromosomes, Human, Pair 15
• Chromosomes, Human, Pair 22
• Genetic Carrier Screening / methods
• Humans
• Male
• Meiosis / genetics
• Pedigree
• Sex Chromosomes
• Spermatozoa / ultrastructure
• Translocation, Genetic / genetics

Publication Types

• Case Reports
• Journal Article
• Research Support, Non-U.S. Gov't

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