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Article

Mosaic pentasomy X/tetrasomy X syndrome and premature ovarian failure.

Indian pediatrics - 1 May 2011

Wood Andy, Kleis Lora, Toriello Helga, Cemeroglu Ayse Pinar

Abstract excerpt

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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Source

Identifiers

PMID: 21654007

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PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 7 Sept 2026. Manifest publication-graph-cohort-2026-09-08.1.

Source receipt: pubmed, retrieved 7 Sept 2026.

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