| Mosaic pentasomy X/tetrasomy X syndrome and premature ovarian failure. | |
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MedLine Citation:
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PMID: 21654007 Owner: NLM Status: MEDLINE |
Abstract/OtherAbstract:
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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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Authors:
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Andy Wood; Lora Kleis; Helga Toriello; Ayse Pinar Cemeroglu |
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Publication Detail:
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Type: Case Reports; Journal Article |
Journal Detail:
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Title: Indian pediatrics Volume: 48 ISSN: 0974-7559 ISO Abbreviation: Indian Pediatr Publication Date: 2011 May |
Date Detail:
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Created Date: 2011-06-09 Completed Date: 2011-09-30 Revised Date: 2011-11-21 |
Medline Journal Info:
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Nlm Unique ID: 2985062R Medline TA: Indian Pediatr Country: India |
Other Details:
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Languages: eng Pagination: 402-4 Citation Subset: IM |
Affiliation:
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Helen DeVos Childrens Hospital, Pediatric Endocrinology and Diabetes, Grand Rapids, MI 49503, USA. |
Export Citation:
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| MeSH Terms | |
Descriptor/Qualifier:
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Adolescent Aneuploidy Bone Diseases, Metabolic / genetics Chromosomes, Human, X / genetics Craniofacial Abnormalities / genetics* Female Humans Intellectual Disability / genetics* Phenotype Primary Ovarian Insufficiency / genetics* Sex Chromosome Aberrations Sex Chromosome Disorders / genetics* Syndrome |
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