8.5 Mb deletion at distal 5p in a male ascertained for azoospermia.
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.
Rossi
Elena
E
Biologia Generale e Genetica Medica, Università di Pavia, Pavia, Italy. rossie@unipv.it
de Gregori
Manuela
M
Grazia Patricelli
Maria
M
Pramparo
Tiziano
T
Argentiero
Luisa
L
Giglio
Sabrina
S
Sosta
Katiuscia
K
Foresti
Giovanni
G
Zuffardi
Orsetta
O
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