FISH analysis in Prader-Willi and Angelman syndrome patients

D. Bettio; N. Rizzi; D. Giardino; G. Grugni; V. Briscioli; A. Selicorni; F. Carnevale; F. Larizza

doi:10.1002/ajmg.1320560222

FISH analysis in Prader-Willi and Angelman syndrome patients

D. Bettio, N. Rizzi, D. Giardino, G. Grugni, V. Briscioli, A. Selicorni, F. Carnevale, F. Larizza

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

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	https://doi.org/10.1002/ajmg.1320560222
Publication status	Published - 1995

Keywords

Angelman syndrome
chromosome 15
FISH analysis
Prader-Willi syndrome

ASJC Scopus subject areas

Genetics(clinical)

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10.1002/ajmg.1320560222

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title = "FISH analysis in Prader-Willi and Angelman syndrome patients",

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.",

keywords = "Angelman syndrome, chromosome 15, FISH analysis, Prader-Willi syndrome",

author = "D. Bettio and N. Rizzi and D. Giardino and G. Grugni and V. Briscioli and A. Selicorni and F. Carnevale and F. Larizza",

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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

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FISH analysis in Prader-Willi and Angelman syndrome patients

Abstract

Keywords

ASJC Scopus subject areas

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