Deletion 9p, duplication 18q in two sisters resulting from a maternal (9;18) (p22;q21.3) translocation.
We have studied two sisters with partial deletion 9p and partial duplication 18q resulting from adjacent 1 segregation of a maternal translocation (9;18) (p22;q21.3). The clinical manifestations identified in our patients were compared with those reported in the literature for 9p- and 18q+ patients involving approximately the same amount of genetic material. There was relatively greater similarity with the 9p- syndrome than with dup (18q) syndrome, but typical characteristics of both conditions were lacking.
Tayel
S M
SM
Department of Pediatrics, Medical College of Ohio, Toledo 43699.
Kurczynski
T W
TW
Casperson
S
S
McCorquodale
M M
MM
D000015:Abnormalities, Multiple / Q000235:genetics; D002675:Child, Preschool; D002871:Chromosome Banding; D002872:Chromosome Deletion; D002887:Chromosomes, Human, Pair 18; D002892:Chromosomes, Human, Pair 22; D002899:Chromosomes, Human, Pair 9; D005260:Female; D006801:Humans; D007223:Infant; D007621:Karyotyping; D010375:Pedigree; D014178:Translocation, Genetic