Duplication of the distal segment of 14q
- 1 November 1983
- journal article
- research article
- Published by Wiley in American Journal of Medical Genetics
- Vol. 16 (3), 357-366
- https://doi.org/10.1002/ajmg.1320160307
Abstract
We describe a child with duplication of the distal segment of 14q. Her father carries a balanced translocation between chromosomes 14 and 15. A detailed table compares her clinical findings with those of the seven previously published cases and an additional three new cases in an effort to define a recognizable syndrome. Serum α‐1 antitrypsin levels and PI typing did not help to localize the α‐1 antitrypsin gene locus.Keywords
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