title: Terminal deletion of the short arm of chromosome 5.
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.
authors.affiliation: Department of Pediatrics, University of Padova, Italy.
authors.forename: C
authors.initials: C
authors.lastname: Baccichetti
authors.forename: E
authors.initials: E
authors.lastname: Lenzini
authors.forename: L
authors.initials: L
authors.lastname: Artifoni
authors.forename: D
authors.initials: D
authors.lastname: Caufin
authors.forename: P
authors.initials: P
authors.lastname: Marangoni
mesh_terms: D000293:Adolescent; D000328:Adult; D002648:Child; D002872:Chromosome Deletion; D002874:Chromosome Mapping; D002895:Chromosomes, Human, Pair 5; D003410:Cri-du-Chat Syndrome / Q000235:genetics*; D005260:Female; D006801:Humans; D007621:Karyotyping; D008297:Male