Inherited duplication of Xq27.2 ??? qter: phenocopy of infantile Prader-Willi syndrome
- 1 April 2001
- journal article
- case report
- Published by Wolters Kluwer Health in Clinical Dysmorphology
- Vol. 10 (2) , 141-144
- https://doi.org/10.1097/00019605-200104000-00012
Abstract
A male is described with familial duplication of the distal long arm of the X chromosome (Xq27.2-->qter) at the distal short arm (Xp22.3). The proband has features of the male Prada-Willi syndrome phenotype that have not previously been reported in other males with duplication of Xq27-->qter.Keywords
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