PMID: 489013Sep 1, 1979Paper

Terminal 7p deletion and 1;7 translocation associated with craniosynostosis

Human Genetics
R K Dhadial, M F Smith

Abstract

A female infant with presumptive deletion of the 7p2 region and an unusual translocation between a part of the short arm of chromosome 1 and a deleted chromosome 7 is described. The patient showed congenital craniosynostosis of the coronal and metopic sutures; marked turricephaly; hypotelorism; deeply cleft palate; shallow orbits with prominent bulging eyes; a depressed nasal bridge; anteverted nostrils; short hands with broad thin fingers and elongated thumbs; a mild talipes calcaneovalgus deformity of the feet; a systolic murmur due to a small VSD; and psychomotor retardation. The child died of bronchopneumonia at 10 weeks of age. The parents are chromosomally normal.

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Citations

May 1, 1988·Journal of Medical Genetics·L C Tsui
Jun 15, 2011·American Journal of Medical Genetics. Part a·Elliott G RichardsDaryl A Scott
Jan 28, 2003·American Journal of Medical Genetics. Part a·Julie E Hoover-FongA Hamosh
Jul 1, 1994·American Journal of Medical Genetics·K A ChotaiR M Winter
Oct 1, 1993·American Journal of Medical Genetics·C S ReidE W Jabs
Sep 15, 1991·American Journal of Medical Genetics·D J AughtonA E Guttmacher
Sep 1, 1992·American Journal of Medical Genetics·T A GrebeS B Cassidy
Jul 1, 1993·Journal of Medical Genetics·C WangL G Biesecker
Aug 1, 1982·Clinical Genetics·C D DeLozierE Engel
May 1, 1982·Clinical Genetics·B CarloZ Vincenzo

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