title: 8.5 Mb deletion at distal 5p in a male ascertained for azoospermia.
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.
authors.affiliation: Biologia Generale e Genetica Medica, Università di Pavia, Pavia, Italy. rossie@unipv.it
authors.forename: Elena
authors.initials: E
authors.lastname: Rossi
authors.forename: Manuela
authors.initials: M
authors.lastname: de Gregori
authors.forename: Maria
authors.initials: M
authors.lastname: Grazia Patricelli
authors.forename: Tiziano
authors.initials: T
authors.lastname: Pramparo
authors.forename: Luisa
authors.initials: L
authors.lastname: Argentiero
authors.forename: Sabrina
authors.initials: S
authors.lastname: Giglio
authors.forename: Katiuscia
authors.initials: K
authors.lastname: Sosta
authors.forename: Giovanni
authors.initials: G
authors.lastname: Foresti
authors.forename: Orsetta
authors.initials: O
authors.lastname: Zuffardi
mesh_terms: D000328:Adult; D002872:Chromosome Deletion; D002895:Chromosomes, Human, Pair 5 / Q000235:genetics*; D006801:Humans; D017404:In Situ Hybridization, Fluorescence; D008297:Male; D009845:Oligospermia / Q000235:genetics* / Q000473:pathology