Segregation of a supernumerary del(15) marker chromosome in sperm

Authors


Corresponding author: Philip D Cotter, PhD, Division of Medical Genetics, Children's Hospital Oakland, 747 Fifty Second Street, Oakland, CA 94609, USA. Tel: +510 428 3518; fax: +510 601 3998; e-mail: pcotter@itsa.ucsf.edu

Abstract

Supernumerary marker chromosomes (SMC) can be associated with both normal and abnormal phenotypes. In addition, SMC are found at higher frequency in males with infertility. We identified a SMC, characterized as a del(15)(q11.2) chromosome, in a phenotypically normal male. Using fluorescence in situ hybridization (FISH), we examined the segregation of the del(15) chromosome in sperm from this patient. Only 6.23% of sperm nuclei showed disomy using a chromosome 15 α-satellite FISH probe, instead of the expected 50%. In addition, FISH analysis showed no increase for non-disjunction of chromosome 18, excluding an interchromosomal effect for this chromosome. The significant decrease in sperm bearing the del(15) may be due to tissue-specific mosaicism or a result of some form of selection against the del(15) during spermatogenesis. This finding provides a basis for the observation that SMC(15) are less likely to be inherited from a paternal carrier.

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