An unusual case of mosaic Down's syndrome involving two different Robertsonian translocations.
A 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.
Clarke
M J
MJ
Regional Cytogenetics Unit, Birmingham Maternity Hospital, Edgbaston.
Thomson
D A
DA
Griffiths
M J
MJ
Bissenden
J G
JG
Aukett
A
A
Watt
J L
JL
D002871:Chromosome Banding; D002872:Chromosome Deletion; D002882:Chromosomes, Human, Pair 13; D002891:Chromosomes, Human, Pair 21; D002970:Cleavage Stage, Ovum; D004314:Down Syndrome / Q000235:genetics*; D005260:Female; D006801:Humans; D007231:Infant, Newborn; D007621:Karyotyping; D009030:Mosaicism; D014178:Translocation, Genetic