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

doi:10.1002/ajmg.a.30519

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

IRCCS Fondazione Policlinico San Matteo

Research output: Contribution to journal › Article › peer-review

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.

Original language	English
Pages (from-to)	189-192
Number of pages	4
Journal	American Journal of Medical Genetics
Volume	133 A
Issue number	2
DOIs	https://doi.org/10.1002/ajmg.a.30519
Publication status	Published - Mar 1 2005

Keywords

5p deletion
Azoospermic male
Fish analysis
Neuropsychological assessment

ASJC Scopus subject areas

Genetics(clinical)

Access to Document

10.1002/ajmg.a.30519

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8.5 Mb deletion at distal 5p in a male ascertained for azoospermia. / Rossi, Elena; De Gregori, Manuela; Patricelli, Maria Grazia; Pramparo, Tiziano; Argentiero, Luisa; Giglio, Sabrina; Sosta, Katiuscia; Foresti, Giovanni; Zuffardi, Orsetta.

In: American Journal of Medical Genetics, Vol. 133 A, No. 2, 01.03.2005, p. 189-192.

Research output: Contribution to journal › Article › peer-review

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AU - Argentiero, Luisa

AU - Giglio, Sabrina

AU - Sosta, Katiuscia

AU - Foresti, Giovanni

AU - Zuffardi, Orsetta

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