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Ann Biol Clin (Paris) ; 65(5): 569-73, 2007.
Article in French | MEDLINE | ID: mdl-17913678

ABSTRACT

We report a new case of transient myeloproliferative disorder (TMD) in a non Down syndrome neonate. The cytogenetic and molecular studies within from the blood blast cells identified a trisomy 21 and a partial deletion in exon 2 of the transcription factor GATA1. Spontaneous regression of the TMD was achieved at the age of 1 month as the clonal and molecular abnormalities. A survey by periodic cytological examinations of peripheral blood cells and GATA1 mutation analysis was instituted since three years and has not detected up to date acute leukaemia.


Subject(s)
Infant, Premature, Diseases/diagnosis , Infant, Premature , Myeloproliferative Disorders/diagnosis , Diseases in Twins , Down Syndrome/genetics , Exons/genetics , Follow-Up Studies , GATA1 Transcription Factor/genetics , Gene Deletion , Humans , Infant, Newborn , Male , Mutation/genetics , Remission, Spontaneous , Twins, Dizygotic
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