Mosaic Pentasomy X/Tetrasomy X Syndrome and Premature Ovarian Failure.

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ip2011v48n5p402.pdf (21.64 KB)
Date
2011-05
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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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Keywords
Osteopenia, Pentasomy X syndrome, Premature ovarian failure, Tetrasomy X syndrome
Citation
Wood Andy, Kleis Lora, Toriello Helga, Cemeroglu Ayse Pinar. Mosaic Pentasomy X/Tetrasomy X Syndrome and Premature Ovarian Failure. Indian Pediatrics. 2011 May; 48(5): 402-404.
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https://imsear.searo.who.int/handle/123456789/168841
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Indian Pediatrics