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Am J Med Genet. 1990 Jan;35(1):95-9.

Ectro-amelia syndrome associated with an interstitial deletion of 7q.

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  • 1Division of Genetics, Children's Mercy Hospital, Kansas City, Missouri 64108.

Abstract

We describe a premature male infant with an interstitial deletion of 7q [46,XY,del(7) (pter----q21.3::q31.3----qter]. Manifestations include absence of lower limbs, unilateral ectrodactyly, facial anomalies, gingival hyperplasia, feeding problems, and atrial septal defect. Chromosome 7 deletions of the q21.3----q31.3 region are reviewed with emphasis on limb anomalies.

PMID:
2301476
[PubMed - indexed for MEDLINE]
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