De novo pericentric inversion of chromosome 4, inv(4)(p16q12) in a boy with piebaldism and mental retardation.
An 8-year-old boy who was diagnosed to have piebaldism had moderate growth and mental retardation. Chromosome analysis from peripheral blood showed pericentric inversion 4(p16q12). The inversion was further confirmed by fluorescence in situ hybridization using whole chromosome painting and centromeric probes. Chromosomal analysis of parents revealed de novo inheritance of this inversion. This is the first report of pericentric inversion associated with piebald trait.
Ramadevi
A Radha
AR
Diagnostics Division, Center for DNA Fingerprinting and Diagnostics, Hyderabad, India. radha@www.cdfd.org.in
Naik
Usha
U
Dutta
Usha
U
Srikanth
Prabhakara
K
K
D002648:Child; D002871:Chromosome Banding; D007446:Chromosome Inversion; D002894:Chromosomes, Human, Pair 4 / Q000235:genetics*; D006801:Humans; D017404:In Situ Hybridization, Fluorescence; D008607:Intellectual Disability / Q000150:complications*; D007621:Karyotyping; D008297:Male; D016116:Piebaldism / Q000150:complications / Q000235:genetics*