Jacobsen distal 11q deletion syndrome with a myelodysplastic change of hemopoietic cells.
Am J Med Genet
; 75(4): 341-4, 1998 Feb 03.
Article
em En
| MEDLINE
| ID: mdl-9482638
ABSTRACT
We describe a male infant with unusual facial appearance, relative pancytopenia, bilateral simian creases, and an accessory nipple. Cytogenetic analysis showed deletion of the long arm of chromosome 11 [46,XY,del(11)(pter-->q23.2)]. Bone-marrow study showed a myelodysplastic change of hemopoietic cells compatible with peripheral blood findings. Pachygyria of the temporal and frontal lobes was demonstrated by magnetic resonance image (MRI) of the brain. We present our findings in order to contribute to the information on 11q23 deletion.
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Base de dados:
MEDLINE
Assunto principal:
Síndromes Mielodisplásicas
/
Cromossomos Humanos Par 11
/
Aberrações Cromossômicas
/
Deleção de Genes
Limite:
Humans
/
Infant
/
Male
Idioma:
En
Revista:
Am J Med Genet
Ano de publicação:
1998
Tipo de documento:
Article