Report of two cases of distal deletion of the long arm of chromosome 6.
Am J Med Genet
; 29(4): 807-14, 1988 Apr.
Article
em En
| MEDLINE
| ID: mdl-3400725
ABSTRACT
We report on two patients with distal deletions of 6q. In one case a de novo translocation between chromosomes 6 and 7 resulted in del(6q25----6qter). The other case had a de novo deletion, also from 6q25 to 6qter. There have been eight previous reports of distal deletions of 6q. These patients have developmental retardation, microcephaly, craniofacial anomalies, various types of congenital heart defects, and anomalies of hands and feet. The facial similarities of our two patients and those in six published photographs are subtle and may represent an emerging phenotype.
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Coleções:
01-internacional
Base de dados:
MEDLINE
Assunto principal:
Anormalidades Múltiplas
/
Cromossomos Humanos Par 6
/
Deleção Cromossômica
Limite:
Female
/
Humans
Idioma:
En
Ano de publicação:
1988
Tipo de documento:
Article