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An unusual case of mosaic Down s syndrome involving two different Robertsonian translocations Clarke MJ; Thomson DA; Griffiths MJ; Bissenden JG; Aukett A; Watt JLJ Med Genet 1989[Mar]; 26 (3): 198-201A baby girl with some of the stigmata of Down's syndrome was found to be a mosaic with three different cell lines: 45,XX,-13,-21,+t(13q21q)/(46,XX/46,XX, -21,+t(21q21q). The chromosome rearrangements detected in this patient appear to have arisen de novo. In the normal cell line the terminal end of the p arm of one chromosome 21 is thought to have been damaged. It seems probable that this is related to the other chromosomal anomalies found.|*Chromosomes, Human, Pair 13[MESH]|*Chromosomes, Human, Pair 21[MESH]|*Mosaicism[MESH]|*Translocation, Genetic[MESH]|Chromosome Banding[MESH]|Chromosome Deletion[MESH]|Cleavage Stage, Ovum[MESH]|Down Syndrome/*genetics[MESH]|Female[MESH]|Humans[MESH]|Infant, Newborn[MESH]|Karyotyping[MESH] |
