A case of Hirschsprung disease with a chromosome 13 microdeletion, del(13)(q32.3q33.2): potential mapping of one disease locus.

ABSTRACT

A mentally retarded boy with discrete physical findings, Hirschsprung disease (HD) and a microdeletion of 13q,del(13)(q32.3q33.2) is described. Band 13q33.1 was consistently missing in all cells. There have been, to date, 4 published cases of deletions involving the long arm of chromosome 13 associated with HD the interstitial deletion reported here is much smaller than, and it partially overlaps with, the previously reported deletions; it could be helpful for mapping one of the genes involved in this disease.