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.
Department of Morphologic Sciences, Universidad Peruana Cayetano Heredia, Lima.
M I
MI
de Michelena
J
J
Villacorta
J
J
Chávez
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