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 | |
| Publication status | Published - Mar 1 2005 |
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Keywords
- 5p deletion
- Azoospermic male
- Fish analysis
- Neuropsychological assessment
ASJC Scopus subject areas
- Genetics(clinical)
Cite this
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
}
TY - JOUR
T1 - 8.5 Mb deletion at distal 5p in a male ascertained for azoospermia
AU - Rossi, Elena
AU - De Gregori, Manuela
AU - Patricelli, Maria Grazia
AU - Pramparo, Tiziano
AU - Argentiero, Luisa
AU - Giglio, Sabrina
AU - Sosta, Katiuscia
AU - Foresti, Giovanni
AU - Zuffardi, Orsetta
PY - 2005/3/1
Y1 - 2005/3/1
N2 - 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.
AB - 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.
KW - 5p deletion
KW - Azoospermic male
KW - Fish analysis
KW - Neuropsychological assessment
UR - http://www.scopus.com/inward/record.url?scp=14044249492&partnerID=8YFLogxK
UR - http://www.scopus.com/inward/citedby.url?scp=14044249492&partnerID=8YFLogxK
U2 - 10.1002/ajmg.a.30519
DO - 10.1002/ajmg.a.30519
M3 - Article
VL - 133 A
SP - 189
EP - 192
JO - American Journal of Medical Genetics, Part A
JF - American Journal of Medical Genetics, Part A
SN - 1552-4825
IS - 2
ER -