A case of Hirschsprung disease with a chromosome 13 microdeletion, del(13)(q32.3q33.2): potential mapping of one disease locus.
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.
Bottani
A
A
Institut für Medizinische Genetik der Universität, Zürich, Switzerland.
Xie
Y G
YG
Binkert
F
F
Schinzel
A
A
D000293:Adolescent; D002871:Chromosome Banding; D002872:Chromosome Deletion; D002874:Chromosome Mapping; D002882:Chromosomes, Human, Pair 13; D003241:Consanguinity; D006627:Hirschsprung Disease / Q000235:genetics*; D006801:Humans; D007621:Karyotyping; D008297:Male