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

✍ Scribed by R. K. Dhadial; M. F. Smith

Publisher
Springer
Year
1979
Tongue
English
Weight
610 KB
Volume
50
Category
Article
ISSN
0340-6717

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✦ Synopsis

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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