嵌合体五倍体 X/四倍体 X 综合征和卵巢早衰。
Mosaic pentasomy X/tetrasomy X syndrome and premature ovarian failure.
机构信息
Helen DeVos Childrens Hospital, Pediatric Endocrinology and Diabetes, Grand Rapids, MI 49503, USA.
出版信息
Indian Pediatr. 2011 May;48(5):402-4.
PMID:21654007
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.
摘要
一位 16 岁的女孩患有五倍体 X 嵌合体（47,XXX(1) 48,XXXX(12)/49,XXXXX），表现为原发性闭经。她有内眦赘皮、长人中、高拱形腭、面部不对称、短蹼颈、低后发际线、轻度脊柱侧凸、肘外翻、智力障碍和指（趾）弯曲。她被诊断为骨质疏松症和卵巢早衰。
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