Angelman Syndrome and Prenatally Diagnosed Prader-Willi Syndrome in First Cousins

作者：Ranganath Prajnya; Agarwal Meenal; Phadke Shubha R^*

来源：American Journal of Medical Genetics, Part A, 2011, 155A(11): 2788-2790.

DOI：10.1002/ajmg.a.34234

• familial translocation
• Angelman syndrome
• Prader-Willi syndrome
• prenatal diagnosis

Prader-Willi syndrome (PWS) and Angelman syndrome (AS) are caused by loss of function of imprinted genes in the 15q11-13 critical region. Reports of PWS and AS in close relatives within the same family are rare. We report on the diagnosis of a familial unbalanced 10; 15 translocation causing AS in a child that led to the prenatal diagnosis of an unbalanced 10; 15 translocation with resultant deletion of the Prader-Willi critical region in her maternal uncle's offspring.

• 出版日期2011-11
• 单位河北医科大学