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

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.

trova@unifi

Titolo:	8.5 Mb deletion at distal 5p in a male ascertained for azoospermia.
Autori di Ateneo:	Elena Rossi Manuela de Gregori Maria Grazia Patricelli Tiziano Pramparo Luisa Argentiero GIGLIO, SABRINA RITA Katiuscia Sosta Giovanni Foresti Orsetta Zuffardi mostra contributor esterni nascondi contributor esterni
Autori:	Elena Rossi; Manuela de Gregori; Maria Grazia Patricelli; Tiziano Pramparo; Luisa Argentiero; GIGLIO, SABRINA RITA; Katiuscia Sosta; Giovanni Foresti; Orsetta Zuffardi
Data di pubblicazione:	2005
Rivista:	AMERICAN JOURNAL OF HUMAN GENETICS
Volume:	133A
Pagina iniziale:	189
Pagina finale:	192
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.
Handle:	http://hdl.handle.net/2158/334754
Appare nelle tipologie:	1a - Articolo su rivista

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