Hirschsprung disease (HSCR) is a frequent congenital disorder (1 in 5,000 
newborns) of unknown origin characterized by the absence of parasympathetic 
intrinsic ganglion cells of the hindgut. Taking advantage of a proximal deletion 
of chromosome 10q (del 10q11.2-q21.2) in a patient with total colonic 
aganglionosis, and of a high-density genetic map of microsatellite DNA markers, 
we performed genetic linkage analysis in 15 non-syndromic long-segment and 
short-segment HSCR families. Multipoint linkage analysis indicated that the most 
likely location for a HSCR locus is between loci D10S208 and D10S196, suggesting 
that a dominant gene for HSCR maps to 10q11.2, a region to which other neural 
crest defects have been mapped.