Angelman syndrome and prenatally diagnosed Prader–Willi syndrome in first cousins

Authors

  • Prajnya Ranganath,

    1. Department of Medical Genetics, Sanjay Gandhi Postgraduate Institute of Medical Sciences, Lucknow, Uttar Pradesh, India
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    • Professor and Head.

  • Meenal Agarwal,

    1. Department of Medical Genetics, Sanjay Gandhi Postgraduate Institute of Medical Sciences, Lucknow, Uttar Pradesh, India
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  • Shubha R. Phadke

    Corresponding author
    1. Department of Medical Genetics, Sanjay Gandhi Postgraduate Institute of Medical Sciences, Lucknow, Uttar Pradesh, India
    • Department of Medical Genetics, Sanjay Gandhi Postgraduate Institute of Medical Sciences, Rae Bareilly Road, Lucknow 226014, Uttar Pradesh, India.
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  • How to Cite this Article: Ranganath P, Agarwal M, Phadke SR. 2011. Angelman syndrome and prenatally diagnosed Prader–Willi syndrome in first cousins. Am J Med Genet Part A 155: 2788–2790.

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. © 2011 Wiley Periodicals, Inc.

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