title: Mosaic pentasomy X/tetrasomy X syndrome and premature ovarian failure.
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.
authors.affiliation: Helen DeVos Childrens Hospital, Pediatric Endocrinology and Diabetes, Grand Rapids, MI 49503, USA.
authors.forename: Andy
authors.initials: A
authors.lastname: Wood
authors.forename: Lora
authors.initials: L
authors.lastname: Kleis
authors.forename: Helga
authors.initials: H
authors.lastname: Toriello
authors.forename: Ayse Pinar
authors.initials: AP
authors.lastname: Cemeroglu
mesh_terms: D000293:Adolescent; D000782:Aneuploidy; D001851:Bone Diseases, Metabolic / Q000235:genetics; D041321:Chromosomes, Human, X / Q000235:genetics; D019465:Craniofacial Abnormalities / Q000235:genetics*; D005260:Female; D006801:Humans; D008607:Intellectual Disability / Q000235:genetics*; D010641:Phenotype; D016649:Primary Ovarian Insufficiency / Q000235:genetics*; D012729:Sex Chromosome Aberrations; D025064:Sex Chromosome Disorders / Q000235:genetics*; D013577:Syndrome