title: Transient myeloproliferative disorder with trisomy 12.
abstract: The authors report the first case of transient myeloproliferative disorder (TMD) in a neonate with trisomy 12. The clinical course consisted of respiratory distress since birth with probability of transient tachypnea of newborn, but routine investigation revealed total leukocyte count of 56000/microL with 91% blasts, which returned to normal spontaneously during the subsequent 3 weeks. GTG-banded karyotype from peripheral blood was done to detect any mutation, specifically trisomy 21, but the proband revealed trisomy 12 and denaturing polyacrylamide gel electrophoresis (PAGE) detected mutation in exon 2 of GATA1. The condition has been described in association with Down syndrome (trisomy 21) but never with trisomy 12. This case demonstrates the importance of knowing this entity so that it is not erroneously diagnosed as a leukemic process. This is extremely important because most cases of TMD resolve spontaneously within a few weeks to months and do not require treatment other than supportive measures. A search of the literature did not reveal any similar case.
authors.affiliation: Department of Paediatrics, Institute of Medical Sciences, Banaras Hindu University, Varanasi, India. basuv3000@yahoo.co.in
authors.forename: Biswanath
authors.initials: B
authors.lastname: Basu
authors.forename: Vineeta
authors.initials: V
authors.lastname: Gupta
mesh_terms: D002881:Chromosomes, Human, Pair 12; D005260:Female; D050982:GATA1 Transcription Factor / Q000235:genetics; D006801:Humans; D007231:Infant, Newborn; D009154:Mutation; D009196:Myeloproliferative Disorders / Q000235:genetics*; D014314:Trisomy
chemical_list: D050982:GATA1 Transcription Factor; C494688:GATA1 protein, human