Small terminal deletions of the long arm of chromosome 2: two new cases.
Am J Med Genet
; 53(4): 366-9, 1994 Dec 01.
Article
em En
| MEDLINE
| ID: mdl-7532357
ABSTRACT
We report on 2 girls with small de novo terminal deletions of the long arm of chromosome 2 and breakpoints within q37. Four cases with similar or more extensive deletions have been previously reported in full. Hypotonia and psychomotor retardation were the only manifestations common to all 6 cases. The phenotype associated with small terminal 2q deletions is variable and clearly not always as mild as indicated in previous reports. The abnormality may also be more common than has been assumed.
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Coleções:
01-internacional
Base de dados:
MEDLINE
Assunto principal:
Cromossomos Humanos Par 2
/
Deficiências do Desenvolvimento
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Aberrações Cromossômicas
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Deleção Cromossômica
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Transtornos Cromossômicos
Limite:
Child
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Female
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Humans
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Infant
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Newborn
Idioma:
En
Revista:
Am J Med Genet
Ano de publicação:
1994
Tipo de documento:
Article
País de afiliação:
Reino Unido