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Broad-spectrum Möbius syndrome associated with a 1;11 chromosome translocation.

作者信息

Donahue S P, Wenger S L, Steele M W, Gorin M B

机构信息

Department of Ophthalmology, University of Pittsburgh School of Medicine, PA.

出版信息

Ophthalmic Paediatr Genet. 1993 Mar;14(1):17-21. doi: 10.3109/13816819309087618.

Abstract

The authors report a case of Möbius syndrome with Poland syndrome, cleft palate, dextrocardia, mandibular hypoplasia, and multiple areas of diffuse brain volume loss. Karyotype demonstrated a t(1;11)(p22;p13) translocation in the patient and his phenotypically normal father and brother. This case extends the spectrum of congenital disorders that are associated with Möbius syndrome and raises the possibility of genetic heterogeneity for the Möbius disorder.

摘要

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