We report on a 5pazoospermicmale 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.
8.5 Mb deletion at distal 5p in a male ascertained for azoospermia / Elena, Rossi; Manuela De, Gregori; Maria Grazia, Patricelli; Tiziano, Pramparo; Luisa, Argentiero; Giglio, Sabrina Rita; Katiuscia, Sosta; Giovanni, Foresti; Orsetta, Zuffardi. - In: AMERICAN JOURNAL OF HUMAN GENETICS. - ISSN 0002-9297. - 133A:(2005), pp. 189-192.
8.5 Mb deletion at distal 5p in a male ascertained for azoospermia
GIGLIO, SABRINA RITA;
2005-01-01
Abstract
We report on a 5pazoospermicmale 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.I documenti in IRIS sono protetti da copyright e tutti i diritti sono riservati, salvo diversa indicazione.
