Interstitial deletion of chromosome 4, del(4)(q12q21.1), in a mentally retarded boy with a piebald trait, due to maternal insertion, ins(8;4).
A 17-year-old boy who was diagnosed with "Waardenburg syndrome" showed moderate growth and mental retardation. Chromosome analysis showed an apparent interstitial deletion 4q12q21.1. The mother had a direct insertion of the deleted segment into a chromosome 8. The rearrangement was confirmed to be nonreciprocal and an insertion by in situ hybridization using whole chromosome 4 and 8 painting probes. The mother's karyotype is 46,XX,ins(8;4)(q21.2;q12q21.1); that of the propositus is 46,XY, der(4)ins(8;4)(q21.2;q12q21.1)mat. This is the first report of an inherited proximal 4q deletion.
Fujimoto
A
A
Department of Pediatrics, Los Angeles County-University of Southern California Medical Center 90033, USA.
Reddy
K S
KS
Spinks
R
R
D000293:Adolescent; D002872:Chromosome Deletion; D002894:Chromosomes, Human, Pair 4 / Q000235:genetics*; D002898:Chromosomes, Human, Pair 8 / Q000235:genetics*; D004251:DNA Transposable Elements; D006801:Humans; D008607:Intellectual Disability / Q000235:genetics*; D007621:Karyotyping; D008297:Male; D016116:Piebaldism / Q000235:genetics*; D014849:Waardenburg Syndrome / Q000235:genetics
D004251:DNA Transposable Elements