A TWIN SIBLING WITH PRADER-WILLI SYNDROME CAUSED BY UNIPARENTAL DISOMY CONCEIVED AFTER IN VITRO FERTILIZATION

作者：Atik T; Aykut A; Karaca E; Onay H; Ozkinay F; Cogulu O^*

来源：Genetic Counseling, 2014, 25(4): 433-437.

• In vitro fertilization
• Imprinting defects
• Prader-Willi syndrome
• Uniparental disomy
• Genetic counseling

A twin sibling with Prader-Willi syndrome caused by uniparental disomy conceived after in vitro fertilization: The use of assisted reproductive technologies (ART) has increased gradually in the treatment of infertility worldwide. On the other hand ART has been found to be associated with an increased risk of congenital malformations including imprinting defects as well. Although a number of imprinting syndromes have been reported to be related with ART, no case with uniparental disomy (UPD) caused Prader-Willi syndrome (PWS) [OMIM ID: 176270] has been reported in the literature. Here we present a dizygotic twin in which one of them was born with maternal UPD15 following ART. The proband was a 2-year-old boy who had feeding difficulties, generalized hypotonia, frontal bossing, broad forehead, small hands and feet. Laboratory investigations revealed minimal dilatation in and 4th ventricles and corpus callosum hypoplasia in magnetic resonance imaging, supravalvular pulmonary stenosis in echocardiography and pelvicaliectasia in the USG examinations. Methylation and microsatellite markers analyses showed maternal UPD for chromosome 15. Here we report, for the first time UPD caused PWS patient born after ART.

• 出版日期2014