Article
Balanced translocation 46,XY,t(2;15)(q37.2;q11.2) associated with atypical Prader-Willi syndrome.
American journal of human genetics - 1 Aug 1997
Conroy J M, Grebe T A, Becker L A, Tsuchiya K, Nicholls R D, Buiting K, Horsthemke B, Cassidy S B, Schwartz S
Abstract excerpt
The lack of normally active paternal genes in 15q11-q13, as an outcome of either a paternal deletion or maternal disomy, accounts for >95% of all patients with Prader-Willi syndrome. Other mechanisms, including imprinting mutations and unbalanced translocations involving pat 15q11-q13, have been described elsewhere. In this study, we present a patient with a rare balanced, de novo...
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