Interstitial deletion of distal 13q associated with Hirschsprung's disease.
Three cases of interstitial deletion of chromosome 13 involving the common segment 13q22.1----q32.1 are reported. In addition to the recognised clinical features of this deletion, two had Hirschsprung's disease.
Lamont
M A
MA
Department of Child Health, Southampton General Hospital.
Fitchett
M
M
Dennis
N R
NR
D000015:Abnormalities, Multiple / Q000235:genetics; D002648:Child; D002675:Child, Preschool; D002872:Chromosome Deletion; D002882:Chromosomes, Human, Pair 13; D005260:Female; D006627:Hirschsprung Disease / Q000235:genetics*; D006801:Humans; D007223:Infant; D007621:Karyotyping; D008297:Male