We analyzed 61 Angelman syndrome (AS) patients by cytogenetic and molecular techniques. On the basis of molecular findings, the patients were classified into the following 4 groups: familial cases without deletion, familial cases with submicroscopic deletion, sporadic cases with deletion, and sporad
Molecular study of chromosome 15 in 22 patients with Angelman syndrome
β Scribed by Joke Beuten; Kathelijne Mangelschots; Inge Buntinx; Paul Coucke; Oebele F. Brouwer; Raoul C. M. Hennekam; Christine Broeckhoven; Patrick J. Willems
- Publisher
- Springer
- Year
- 1993
- Tongue
- English
- Weight
- 729 KB
- Volume
- 90
- Category
- Article
- ISSN
- 0340-6717
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## Abstract Angelman and PraderβWilli syndromes are clinically distinct neurobehavioral disorders most commonly resulting from large deletions of chromosome 15q11βq13. The deletions arise differentially during maternal or paternal gametogenesis, respectively. A subgroup of patients with either synd
We have evaluated fluorescence in situ hybridization (FISH) analysis for the clinical laboratory detection of the 15qll-ql3 deletion seen in Prader-Willi syndrome (PWS) and Angelman syndrome (AS) using probes for loci D15Sl1, SNRPN, D15S10, and GABRB3. In a series of 118 samples from patients referr