Angelman syndrome and prenatally diagnosed Prader-Willi syndrome in first cousins |
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Authors: | Ranganath Prajnya Agarwal Meenal Phadke Shubha R |
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Institution: | Department of Medical Genetics, Sanjay Gandhi Postgraduate Institute of Medical Sciences, Lucknow, Uttar Pradesh, India. |
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Abstract: | 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. |
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Keywords: | familial translocation Angelman syndrome Prader–Willi syndrome prenatal diagnosis |
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