Fluorescent in situ hybridization for evaluation of Prader-Willi and Angelman syndromes

Journal Article · Mon Jul 17 00:00:00 EDT 1995 · American Journal of Medical Genetics

DOI:https://doi.org/10.1002/ajmg.1320570426· OSTI ID:102900

Wenger, S L; Cummins, J H ^[1]

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1. Univ. of Pittsburgh, PA (United States)

We have found fluorescence in situ hybridization (FISH) results more reliavle than high resolution chromosome analysis for the diagnosis of Prader-Willi (PWS) or Angelman syndromes (AS). Specifically, we have found success in the detection of 15q11q13 deletions among 55 cases. Our study suggests that FISH analysis using PWS/AS probes can facilitate diagnostic evaluation of these cases for deletions. 2 refs., 1 tab.

• Sponsoring Organization: USDOE
• OSTI ID: 102900
• Journal Information: American Journal of Medical Genetics, Vol. 57, Issue 4; Other Information: PBD: 17 Jul 1995
• Country of Publication: United States
• Language: English

Related Subjects

55 BIOLOGY AND MEDICINE
BASIC STUDIES
HUMAN CHROMOSOME 15
CHROMOSOMAL ABERRATIONS
DETECTION
PATIENTS
KARYOTYPE
HEREDITARY DISEASES
DNA HYBRIDIZATION
FLUORESCENCE