Article
Inherited unbalanced subtelomeric translocation in a child with 8p- and Angelman syndromes.
American journal of medical genetics - 16 May 1997
Wenger S L, Sell S L, Painter M J, Steele M W
Abstract excerpt
A 10 1/2-month-old boy was found to have an unbalanced karyotype, 45,XY,der(8)t(8;15) (p23.3;q13). One of 83 analyzed cells also contained an unidentified small marker. Fluorescence in situ hybridization (FISH) using cosmid probes for SNRPN, D15S10, and GABRB3 for the Prader-Willi syndrome (PWS)/Angelman syndrome (AS) critical region were not present on the derived chromosome. The child had some physical findings...
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