Mosaic pentasomy X/tetrasomy X syndrome and premature ovarian failure.

نویسندگان

  • Andy Wood
  • Lora Kleis
  • Helga Toriello
  • Ayse Pinar Cemeroglu
چکیده

A 16 year-old girl with pentasomy X mosaicism (47,XXX(1) 48,XXXX(12)/49,XXXXX) presented with primary amenorrhea. She had epicanthal folds, long philtrum, high-arched palate, facial asymmetry, short webbed neck, low posterior hairline, mild scoliosis, cubitus valgus, mental retardation and clinodactily. She was diagnosed with osteoporosis and premature ovarian failure.

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عنوان ژورنال:
  • Indian pediatrics

دوره 48 5  شماره 

صفحات  -

تاریخ انتشار 2011