Authors: MingHorng Tsai JiaWoei Hou ChaoPing Yang PongHong Yang ShihMing Chu JenFu Hsu MingChou Chiang HsuanRong Huang
Publish Date: 2011/02/02
Volume: 78, Issue: 7, Pages: 826-832
Abstract
Six neonates 2 phenotypically normal and 4 DS born in the past 6 years had presented with TMD all had trisomy 21 during leukemic status Two DS infants died during early infancy one of hepatic failure and one of cardiac complication One nonDS infant evolved into myelodysplastic syndrome MDS and acute leukemia since 14 months old Three other patients have not developed true leukemia after followup of 8 9 and 70 months respectively The authors detected mutations within exon 2 of GATA1 gene in 3 DS and 2 nonDS infants All these mutations disappeared after remission of TMD but an identical mutation was detected in one nonDS patient when evolving into MDS Trisomy 21 was confined to leukemic clone in nonDS patients
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