A twin sibling with prader-willi syndrome caused by uniparental disomy conceived after in vitro fertilization
Küçük Resim Yok
Tarih
2015
Dergi Başlığı
Dergi ISSN
Cilt Başlığı
Yayıncı
Editions Medecine et Hygiene
Erişim Hakkı
info:eu-repo/semantics/closedAccess
Özet
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 UPD 15 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 3"1 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.
Açıklama
Anahtar Kelimeler
Genetic counseling, Imprinting defects, In vitro fertilization, Prader-willi syndrome, Uniparental disomy
Kaynak
Genetic Counseling
WoS Q Değeri
Scopus Q Değeri
N/A
Cilt
25
Sayı
4
