Terminal deletion of the short arm of chromosome 5.
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.
Baccichetti
C
C
Department of Pediatrics, University of Padova, Italy.
Lenzini
E
E
Artifoni
L
L
Caufin
D
D
Marangoni
P
P
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