Terminal 7p deletion and 1;7 translocation associated with craniosynostosis
- 1 January 1979
- journal article
- research article
- Published by Springer Nature in Human Genetics
- Vol. 50 (3), 285-289
- https://doi.org/10.1007/bf00399394
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.This publication has 10 references indexed in Scilit:
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