Double chromosome anomaly: interstitial deletion 5q and reciprocal translocation (1;11)(p22;q21).
We describe a girl with multiple congenital abnormalities and developmental delay; her karyotype showed an apparently balanced translocation between the short arm of chromosome 1 and the long arm of chromosome 11, and an interstitial deletion of the long arm of chromosome 5 (q15q31). The clinical findings are compared with those described in other cases of 5q deletion, and the origin of the chromosome rearrangements is briefly discussed.
de Michelena
M I
MI
Department of Morphologic Sciences, Universidad Peruana Cayetano Heredia, Lima.
Villacorta
J
J
Chávez
J
J
D000015:Abnormalities, Multiple / Q000235:genetics*; D002871:Chromosome Banding; D002872:Chromosome Deletion; D002878:Chromosomes, Human, Pair 1; D002895:Chromosomes, Human, Pair 5; D005260:Female; D006801:Humans; D007223:Infant; D007621:Karyotyping; D014178:Translocation, Genetic