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; Sabrina Giglio; Katiuscia Sosta; Giovanni Foresti; Orsetta Zuffardi. - In: AMERICAN JOURNAL OF HUMAN GENETICS. - ISSN 0002-9297. - STAMPA. - 133A:(2005), pp. 189-192.

8.5 Mb deletion at distal 5p in a male ascertained for azoospermia.

GIGLIO, SABRINA RITA;
2005

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.
2005
133A
189
192
Elena Rossi; Manuela de Gregori; Maria Grazia Patricelli; Tiziano Pramparo; Luisa Argentiero; Sabrina Giglio; Katiuscia Sosta; Giovanni Foresti; Orset...espandi
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Utilizza questo identificatore per citare o creare un link a questa risorsa: https://hdl.handle.net/2158/334754
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