Bhate M S, Robertson P E, Davison E V, Brummitt J A
Prudhoe Hospital, Northumberland, England.
J Ment Defic Res. 1989 Jun;33 ( Pt 3):235-44. doi: 10.1111/j.1365-2788.1989.tb01471.x.
A case of Prader Willi Syndrome who suffered from hypothyroidism is described. This patient on cytogenetic examination was found to have Mosaic 46,XX/46,XX,del(15)(q11.1q11.2) karyotype.
本文描述了一例患有甲状腺功能减退症的普拉德-威利综合征患者。该患者经细胞遗传学检查发现具有46,XX/46,XX,del(15)(q11.1q11.2)嵌合核型。