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Mosaic pentasomy X/tetrasomy X syndrome and premature ovarian failure
Andy Wood1, Lora Kleis, Helga Toriello
1Helen DeVos Childrens Hospital, Pediatric Endocrinology and Diabetes, Grand Rapids, MI 49503, USA.
Abstract:
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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