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Duplication of the distal segment of 14q

1983; Wiley; Volume: 16; Issue: 3 Linguagem: Inglês

10.1002/ajmg.1320160307

1096-8628

Joan Atkin, Shivanand R. Patil, John M. Opitz,

Genomics and Chromatin Dynamics

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.