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8.5 Mb deletion at distal 5p in a male ascertained for azoospermia
Author(s) -
Rossi Elena,
de Gregori Manuela,
Grazia Patricelli Maria,
Pramparo Tiziano,
Argentiero Luisa,
Giglio Sabrina,
Sosta Katiuscia,
Foresti Giovanni,
Zuffardi Orsetta
Publication year - 2005
Publication title -
american journal of medical genetics part a
Language(s) - English
Resource type - Journals
SCImago Journal Rank - 1.064
H-Index - 112
eISSN - 1552-4833
pISSN - 1552-4825
DOI - 10.1002/ajmg.a.30519
Subject(s) - azoospermia , breakpoint , chromosome , genetics , fluorescence in situ hybridization , biology , phenotype , fish <actinopterygii> , gene , infertility , pregnancy , fishery
Abstract We report on a 5p− azoospermic male not showing the clinical features diagnostic for the cri‐du‐chat syndrome but for a breathy, raspy voice. The 5p deletion breakpoint, determined by fluorescent in situ hybridization (FISH) analysis with BAC clones, maps 8.5 Mb far from the short arm telomere in 5p15.31. Genotype/phenotype correlations in this subject, including his neuropsychological assessment, led us to define that the gene for the cat‐like cry and one gene responsible for mild mental retardation with speech delay map both in the distal 8.5 Mb of chromosome 5 short arm. © 2005 Wiley‐Liss, Inc.