Familial Childhood Monosomy 7 and Associated Myelodysplasia


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Abstract

Familial monosomy 7 is defined as bone marrow monosomy 7 occurring as a sole cytogenetic abnormality affecting 2 or more siblings. It manifests usually in childhood with neurologic disorder (cerebellar ataxia or atrophy) and/or hematologic disorder (marrow hypoplasia, myelodysplasia, acute myeloid leukemia, or pancytopenia). Partial or complete monosomy 7 with hematologic disorder has been reported in 13 families/pedigrees to date. Here we report the 14th family.

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