Abstract
We report on a combined high resolution cytogenetic and fluorescent in situ hybridization study (FISH) on 15 Prader-Willi syndrome (PWS) and 14 Angelman syndrome (AS) patients. High resolution banding showed a microdeletion in the 15q11-q13 region in 7 out of 15 PWS patients, and FISH analysis of the D15S11 and SNRPN cosmids demonstrated absence of the critical region in three additional cases. Likewise 8 out of 14 AS patients were found to be deleted with FISH, using the GABRB3 specific cosmid, whereas only 4 of them had a cytogenetically detectable deletion.
| Original language | English |
|---|---|
| Pages (from-to) | 224-228 |
| Number of pages | 5 |
| Journal | American Journal of Medical Genetics |
| Volume | 56 |
| Issue number | 2 |
| DOIs | |
| Publication status | Published - 1995 |
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Keywords
- Angelman syndrome
- chromosome 15
- FISH analysis
- Prader-Willi syndrome
ASJC Scopus subject areas
- Genetics(clinical)
Cite this
FISH analysis in Prader-Willi and Angelman syndrome patients. / Bettio, D.; Rizzi, N.; Giardino, D.; Grugni, G.; Briscioli, V.; Selicorni, A.; Carnevale, F.; Larizza, F.
In: American Journal of Medical Genetics, Vol. 56, No. 2, 1995, p. 224-228.Research output: Contribution to journal › Article
}
TY - JOUR
T1 - FISH analysis in Prader-Willi and Angelman syndrome patients
AU - Bettio, D.
AU - Rizzi, N.
AU - Giardino, D.
AU - Grugni, G.
AU - Briscioli, V.
AU - Selicorni, A.
AU - Carnevale, F.
AU - Larizza, F.
PY - 1995
Y1 - 1995
N2 - We report on a combined high resolution cytogenetic and fluorescent in situ hybridization study (FISH) on 15 Prader-Willi syndrome (PWS) and 14 Angelman syndrome (AS) patients. High resolution banding showed a microdeletion in the 15q11-q13 region in 7 out of 15 PWS patients, and FISH analysis of the D15S11 and SNRPN cosmids demonstrated absence of the critical region in three additional cases. Likewise 8 out of 14 AS patients were found to be deleted with FISH, using the GABRB3 specific cosmid, whereas only 4 of them had a cytogenetically detectable deletion.
AB - We report on a combined high resolution cytogenetic and fluorescent in situ hybridization study (FISH) on 15 Prader-Willi syndrome (PWS) and 14 Angelman syndrome (AS) patients. High resolution banding showed a microdeletion in the 15q11-q13 region in 7 out of 15 PWS patients, and FISH analysis of the D15S11 and SNRPN cosmids demonstrated absence of the critical region in three additional cases. Likewise 8 out of 14 AS patients were found to be deleted with FISH, using the GABRB3 specific cosmid, whereas only 4 of them had a cytogenetically detectable deletion.
KW - Angelman syndrome
KW - chromosome 15
KW - FISH analysis
KW - Prader-Willi syndrome
UR - http://www.scopus.com/inward/record.url?scp=0028952002&partnerID=8YFLogxK
UR - http://www.scopus.com/inward/citedby.url?scp=0028952002&partnerID=8YFLogxK
U2 - 10.1002/ajmg.1320560222
DO - 10.1002/ajmg.1320560222
M3 - Article
VL - 56
SP - 224
EP - 228
JO - American Journal of Medical Genetics, Part A
JF - American Journal of Medical Genetics, Part A
SN - 1552-4825
IS - 2
ER -