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.
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Authors | Andy Wood, Lora Kleis, Helga Toriello, Ayse Pinar Cemeroglu |
Journal | Indian pediatrics
(Indian Pediatr)
Vol. 48
Issue 5
Pg. 402-4
(May 2011)
ISSN: 0974-7559 [Electronic] India |
PMID | 21654007
(Publication Type: Case Reports, Journal Article)
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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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