Chromosome 21, myeloproliferative disorder and GATA1: More than meets the eye

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Cushing et al describe a case of transient myeloproliferative disorder in infancy in which the infant had no dysmorphic features but was shown to have mosaic Down syndrome. Furthermore, they showed that the somatic mutation in the X-linked transcription factor gene, GATA1, was confined to blast cells, which also had 47 chromosomes. The patient had resolution of myeloproliferation and disappearance of mosaicism by 6 months of age and was followed to 2 years of age without development of malignancy. The authors discuss the intriguing connection between GATA1 and chromosome 21 and urge physicians to fully evaluate and follow infants with myeloproliferative disorders who do not have the phenotype of Down syndrome as well as those who do.