Hereditary spherocytic anemia with deletion of the short arm of chromosome 8.
Am J Med Genet
; 58(3): 225-9, 1995 Sep 11.
Article
en En
| MEDLINE
| ID: mdl-8533822
We describe a 30-month-old boy with multiple anomalies and mental retardation with hereditary spherocytic anemia. His karyotype was 46,XY,del(8)(p11.23p21.1). Genes for ankyrin and glutathione reductase (GSR) were localized to chromosome areas 8p11.2 and 8p21.1, respectively. Six patients with spherocytic anemia and interstitial deletion of 8p- have been reported. In these patients, severe mental retardation and multiple anomalies are common findings. This is a new contiguous gene syndrome. Lux et al. [1990: Nature 345:736-739] established that ankyrin deficiency and associated deficiencies of spectrin and protein 4.2 were responsible for spherocytosis in this syndrome. We reviewed the manifestations of this syndrome. Patients with spherocytic anemia and multiple congenital anomalies should be investigated by high-resolution chromosomal means to differentiate this syndrome.
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Colección:
01-internacional
Base de datos:
MEDLINE
Asunto principal:
Esferocitosis Hereditaria
/
Cromosomas Humanos Par 8
/
Deleción Cromosómica
Límite:
Adolescent
/
Child
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Child, preschool
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Female
/
Humans
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Infant
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Male
Idioma:
En
Revista:
Am J Med Genet
Año:
1995
Tipo del documento:
Article
País de afiliación:
Japón
Pais de publicación:
Estados Unidos