Micromegakaryocytes in a patient with partial deletion of the long arm of chromosome 11 [del(11)(q24.2qter)] and chronic thrombocytopenic purpura.
Am J Med Genet
; 62(2): 120-3, 1996 Mar 15.
Article
em En
| MEDLINE
| ID: mdl-8882392
ABSTRACT
Thrombocytopenia or pancytopenia is frequently reported in patients with partial 11q deletion but there are no reports on bone marrow morphology of these patients. We report on a patient with partial deletion of the long arm of chromosome 11 [del(11)(q24.2qter)] and its classical clinical manifestations including chronic thrombocytopenic purpura in whom micromegakaryocytes were found in the bone marrow aspirate. This is the first report of the presence of micromegakaryocytes in the bone marrow of a patient with 11q deletion. Accurate examination of the bone marrow of other patients with the 11q deletion may clarify whether the observation of micromegakaryocytes is common in these patients. Micromegakaryocytes may indicate a defect of development. Two genes for two DNA binding proteins that are likely to be involved in hematopoiesis map in the 11q region Ets-1, that maps to 11q24, close to D11S912, and the nuclear-factor-related-kB gene that maps to 11q24-q25. It is possible that these genes, when present in only one copy, result in thrombocytopenia or pancytopenia as observed in this patient.
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Coleções:
01-internacional
Base de dados:
MEDLINE
Assunto principal:
Púrpura Trombocitopênica
/
Cromossomos Humanos Par 11
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Megacariócitos
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Deleção Cromossômica
Tipo de estudo:
Observational_studies
/
Prognostic_studies
Limite:
Adult
/
Child, preschool
/
Female
/
Humans
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Male
Idioma:
En
Revista:
Am J Med Genet
Ano de publicação:
1996
Tipo de documento:
Article
País de afiliação:
Itália