Two patients with chromosome 6q terminal deletions with breakpoints at q24.3 and q25.3.
Am J Med Genet
; 43(4): 747-50, 1992 Jul 01.
Article
em En
| MEDLINE
| ID: mdl-1621768
ABSTRACT
We report on 2 patients with de novo terminal deletion of 6q. The first was a 4-month-old boy whose karyotype was 46,XY,del(6)(q24.3); the second a 2-year-old girl whose karyotype was 46, XX, del(6)(q25.3). The main anomalies in both patients included mental retardation, minor craniofacial and cerebral anomalies, and cardiac defects. The characteristic manifestations were imperforate anus in the first patient, and retinitis proliferans and a triatrial heart in the other. Comparison of clinical findings of our 2 patients with those of 18 previously reported patients with similar phenotypes suggests that terminal deletion of the 6q23 or 6q25 band is critical in producing the main anomalies of del(6q) syndrome.
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Coleções:
01-internacional
Base de dados:
MEDLINE
Assunto principal:
Anormalidades Múltiplas
/
Cromossomos Humanos Par 6
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Deleção Cromossômica
Limite:
Child, preschool
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Female
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Humans
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Infant
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Male
Idioma:
En
Revista:
Am J Med Genet
Ano de publicação:
1992
Tipo de documento:
Article
País de afiliação:
Japão