FISH analysis in Prader-Willi and Angelman syndrome patients

Journal Article · Mon Mar 27 00:00:00 EST 1995 · American Journal of Medical Genetics

DOI:https://doi.org/10.1002/ajmg.1320560222· OSTI ID:105271

Bettio, D; Rizzi, N; Giardino, D ^[1]

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1. Centro Auxologico Italiano, Milan (Italy); and others

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. 19 refs., 3 figs., 1 tab.

• Sponsoring Organization: USDOE
• OSTI ID: 105271
• Journal Information: American Journal of Medical Genetics, Vol. 56, Issue 2; Other Information: PBD: 27 Mar 1995
• Country of Publication: United States
• Language: English

Related Subjects

55 BIOLOGY AND MEDICINE
BASIC STUDIES
HUMAN CHROMOSOME 15
CHROMOSOMAL ABERRATIONS
DETECTION
PATIENTS
HEREDITARY DISEASES
GENETICS
RISK ASSESSMENT
DNA HYBRIDIZATION
FLUORESCENCE
BANDING TECHNIQUES
PROBES
BIOLOGICAL MARKERS