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Updated: Sep 22, 2026

FISH for Pre-implantation Genetic Diagnosis
Published on: February 24, 2011
Terminal deletion of the short arm of chromosome 5
C Baccichetti1, E Lenzini, L Artifoni
1Department of Pediatrics, University of Padova, Italy.
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 same 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.
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