Loss of the extra chromosome 21 in a patient with Down syndrome and myelodysplasia.
Monosomy 21 is a rare acquired karyotypic abnormality associated with myeloid disorders. Occurrence of loss of one chromosome 21 in the background of trisomy 21 in Down syndrome, resulting in the pseudo-normalization of trisomy 21, is a novel finding. The case is described of a patient with Down syndrome who acquired such a genetic abnormality as a result of myelodysplastic syndrome.
Tan
Daryl
D
Department of Hematology, Singapore General Hospital, Outram Road, Singapore 169608, Republic of Singapore. daryl.tan@sgh.com.com.sg
Lau
Lai Ching
LC
Teng
Li Min
LM
Sane
Swati
S
Lim
Tse Hui
TH
Tien
Sim Leng
SL
D002891:Chromosomes, Human, Pair 21; D004314:Down Syndrome / Q000150:complications* / Q000235:genetics*; D005260:Female; D006801:Humans; D007621:Karyotyping; D008875:Middle Aged; D009030:Mosaicism; D009190:Myelodysplastic Syndromes / Q000150:complications* / Q000235:genetics*; D014314:Trisomy