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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.
AuthorsAndy Wood, Lora Kleis, Helga Toriello, Ayse Pinar Cemeroglu
JournalIndian pediatrics (Indian Pediatr) Vol. 48 Issue 5 Pg. 402-4 (May 2011) ISSN: 0974-7559 [Electronic] India
PMID21654007 (Publication Type: Case Reports, Journal Article)
Topics
  • 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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