Ectro‐amelia syndrome associated with an interstitial deletion of 7q
- 1 January 1990
- journal article
- research article
- Published by Wiley in American Journal of Medical Genetics
- Vol. 35 (1) , 95-99
- https://doi.org/10.1002/ajmg.1320350118
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.Keywords
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