Terminal deletion of the short arm of chromosome 5
- 1 October 1988
- journal article
- research article
- Published by Wiley in Clinical Genetics
- Vol. 34 (4), 219-223
- https://doi.org/10.1111/j.1399-0004.1988.tb02868.x
Abstract
Three cases of deletion of the short arm of chromosome 5 are described: one family cluster, in which the mother and three sons are affected, and two sporadics without the typical "cri du chat" phenotype (the family and Case 2 were previously reported in 1982). Mental retardation varied between affected members of the family. Band p15.2 appears critical for the development of the complete phenotype. A peculiar deafness observed in the familial and one of the sporadic cases suggests a cochlear malformation.Keywords
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