Neurological expression of an inherited translocation of chromosomal 1 and 7.
Neurosciences (Riyadh)
; 22(1): 62-64, 2017 01.
Article
em En
| MEDLINE
| ID: mdl-28064333
ABSTRACT
An unbalanced translocation of chromosome 1 and 7 (t[1;7]) associated with neurological phenotype and brain malformation has rarely been reported. This clinical report describes 3 siblings with brain malformations and a 13.5 Mb duplication of 1q42.3q44, and a 7.6 Mb duplication of 7q36.1q36.3 detected by array comparative genomic hybridization. This unbalanced t(1;7) was found to be inherited from a balanced translocation from the mother. All the patients presented with hypotonia, microcephaly, developmental delay, seizures, abnormal corpus callosum and abnormal cerebellum.
Texto completo:
1
Base de dados:
MEDLINE
Assunto principal:
Translocação Genética
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Cromossomos Humanos Par 1
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Cromossomos Humanos Par 7
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Encéfalo
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Deficiências do Desenvolvimento
Limite:
Female
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Humans
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Male
Idioma:
En
Ano de publicação:
2017
Tipo de documento:
Article