Familial childhood monosomy 7 and associated myelodysplasia.
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.
Gaitonde
Sujata
S
Department of Pathology, University of Illinois, College of Medicine, Chicago 60612, USA. sgaitond@uic.edu
Boumendjel
Redouane
R
Angeles
Ronald
R
Rondelli
Damiano
D
D000293:Adolescent; D001853:Bone Marrow / Q000473:pathology; D016026:Bone Marrow Transplantation; D002897:Chromosomes, Human, Pair 7 / Q000235:genetics*; D005260:Female; D006801:Humans; D009006:Monosomy / Q000235:genetics*; D009190:Myelodysplastic Syndromes / Q000235:genetics* / Q000473:pathology / Q000601:surgery; D010198:Pancytopenia / Q000235:genetics; D010375:Pedigree; D011247:Pregnancy; D055815:Young Adult