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.
Titolo: | 8.5 Mb deletion at distal 5p in a male ascertained for azoospermia. |
Autori di Ateneo: | |
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: | |
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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