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

Philip D. Cotter; E. Ko; S. K. Larabell; A. W. Rademaker; R. H. Martin

doi:10.1034/j.1399-0004.2000.580611.x

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

Philip D. Cotter^*, E. Ko, S. K. Larabell, A. W. Rademaker, R. H. Martin

^*Corresponding author for this work

IIN - International Institute for Nanotechnology

Research output: Contribution to journal › Article › peer-review

18 Scopus citations

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.

Original language	English (US)
Pages (from-to)	488-492
Number of pages	5
Journal	Clinical genetics
Volume	58
Issue number	6
DOIs	https://doi.org/10.1034/j.1399-0004.2000.580611.x
State	Published - 2000

Keywords

Chromosome 15
Fluorescence in situ hybridization
Spermatocytes
Supernumerary marker chromosome

ASJC Scopus subject areas

Genetics(clinical)
Genetics

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10.1034/j.1399-0004.2000.580611.x

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title = "Segregation of a supernumerary del(15) marker chromosome in sperm",

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.",

keywords = "Chromosome 15, Fluorescence in situ hybridization, Spermatocytes, Supernumerary marker chromosome",

author = "Cotter, {Philip D.} and E. Ko and Larabell, {S. K.} and Rademaker, {A. W.} and Martin, {R. H.}",

year = "2000",

doi = "10.1034/j.1399-0004.2000.580611.x",

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T1 - Segregation of a supernumerary del(15) marker chromosome in sperm

AU - Cotter, Philip D.

AU - Ko, E.

AU - Larabell, S. K.

AU - Rademaker, A. W.

AU - Martin, R. H.

PY - 2000

Y1 - 2000

N2 - 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.

AB - 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.

KW - Chromosome 15

KW - Fluorescence in situ hybridization

KW - Spermatocytes

KW - Supernumerary marker chromosome

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

Abstract

Keywords

ASJC Scopus subject areas

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