| Literature DB >> 21654007 |
Andy Wood1, Lora Kleis, Helga Toriello, Ayse Pinar Cemeroglu.
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.Entities:
Mesh：
Year: 2011 PMID： 21654007
Source DB: PubMed Journal: Indian Pediatr ISSN： 0019-6061 Impact factor: 1.411