Abstract
Preleukemic states are rare in children although monosomy 7 now is recognized as a genetic marker for a childhood myeloproliferative disorder which evolves into bone marrow (BM) failure or acute nonlymphocytic leukemia (ANLL). Recently we observed a Caucasian girl with this disorder. The salient features of her course included: (1) onset of pancytopenia at 9 months of age, (2) persistent granulocytopenia, thrombocytopenia and macrocytosis (MCV = 108) over a 6 year period, (3) evolution of marked dyserythropoiesis at 7 years of age, (4) presence of BM monosomy 7 in 100% of metaphases while PHA stimulated peripheral blood revealed a 46 XX karyotype, (5) conversion to ANLL at 7-1/2 years of age and (8) failure to achieve remission with currently effective ANLL chemotherapy. The patient's healthy 5 year old brother also manifested mild thrombocytopenia, macrocytosis (MCV = 98) and monosomy 7 in his BM karyotype. The observations described here now bring to 27 the total number of reported cases of childhood monosomy 7. Of particular interest, however, 8 of these cases represent 4 pairs of siblings. It thus appears that the frequency of familial involvement may approach 30%. For this reason, siblings of these patients should be serially evaluated for hematologic dysfunction and chromosomal changes. This is especially important since effective therapy for this condition may be bone marrow transplantation from a histocompatible sibling.
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Carroll, W., Amylon, M., Link, M. et al. CHILDHOOD MONOSOMY 7 SYNDROME: A FAMILIAL DISORDER?. Pediatr Res 18 (Suppl 4), 237 (1984). https://doi.org/10.1203/00006450-198404001-00864
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DOI: https://doi.org/10.1203/00006450-198404001-00864