Concurrent de novo interstitial deletion of band 2p22 and reciprocal translocation (3;7)(p21;q22).
A child is described with a de novo interstitial deletion of band 2p22 and a reciprocal translocation (3;7)(p21;q22). The child has mild developmental delay, coloboma of the right eye, and Hirschsprung's disease. The clinical and cytogenetic findings are described.
Webb
G C
GC
Department of Genetics, Royal Children's Hospital, Melbourne, Australia.
Keith
C G
CG
Campbell
N T
NT
D000015:Abnormalities, Multiple / Q000235:genetics*; D000328:Adult; D002675:Child, Preschool; D002871:Chromosome Banding; D002872:Chromosome Deletion; D002889:Chromosomes, Human, Pair 2 / Q000648:ultrastructure*; D002893:Chromosomes, Human, Pair 3 / Q000648:ultrastructure*; D002897:Chromosomes, Human, Pair 7 / Q000648:ultrastructure*; D003103:Coloboma / Q000235:genetics*; D005260:Female; D006627:Hirschsprung Disease / Q000235:genetics*; D006801:Humans; D007498:Iris / Q000002:abnormalities*; D007593:Joint Instability / Q000235:genetics*; D007621:Karyotyping; D008297:Male; D013014:SOS Response, Genetics; D014178:Translocation, Genetic