Down syndrome consequent to a cryptic maternal 12p;21q chromosome translocation

Abstract

A 9‐year‐old, mildly mentally retarded girl presented with phenotypic manifestations of Down syndrome. G‐banded chromosomal analyses of peripheral blood lymphocytes from the patient and her parents, and skin fibroblasts from the patient, did not detect any abnormality. Molecular analysis of 15 highly polymorphic chromosome 21 dinu‐cleotide repeat markers demonstrated a partial duplication of the Down syndrome critical region (D21S55, subband 21q22.2) of maternal origin in the patient. The segmen‐tal trisomy was confirmed by FISH analysis using the cosmid probe D21S55. Further analysis demonstrated that the trisomy was due to segregation of an apparently balanced cryptic translocation from the mother. The patient's karyotype is 46,XX,‐12, tder(12)t(12;21)(p13.1;q22.2)mat.