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Segregation of a supernumerary del(15) marker chromosome in sperm
Author(s) -
Cotter PD,
Ko E,
Larabell SK,
Rademaker AW,
Martin RH
Publication year - 2000
Publication title -
clinical genetics
Language(s) - English
Resource type - Journals
SCImago Journal Rank - 1.543
H-Index - 102
eISSN - 1399-0004
pISSN - 0009-9163
DOI - 10.1034/j.1399-0004.2000.580611.x
Subject(s) - biology , small supernumerary marker chromosome , sperm , fluorescence in situ hybridization , supernumerary , chromosome , genetics , y chromosome , marker chromosome , chromosome 15 , x chromosome , spermatogenesis , fish <actinopterygii> , meiosis , autosome , karyotype , gene , anatomy , endocrinology , fishery
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.