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Article

Del(14)(q22.1q23.2) in a patient with anophthalmia and pituitary hypoplasia

1 May 1998

Abstract excerpt

Only few cases with an interstitial deletion of chromosome 14 have been described so far. We report on a 21-month-old girl with an interstitial deletion of the long arm of chromosome 14, del(14)(q22.1q23.2). She presented with bilateral anophthalmia, absent left external auditory canal, facial asymmetry, microretrognathia, hypotonia, and psychomotor retardation. Skeletal X-rays showed lambdoid craniosynostosis, a...

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Identifiers

PMID: 9605291
DOI: 10.1002/(sici)1096-8628(19980501)77:2<162::aid-ajmg10>3.0.co;2-l

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