De novo partial duplication of chromosome 7p in a male with autistic disorder.
Am J Med Genet
; 105(3): 222-5, 2001 Apr 08.
Article
em En
| MEDLINE
| ID: mdl-11353439
ABSTRACT
We describe a de novo partial duplication of 7p in a 25-year-old male with autistic disorder (AD). High-resolution chromosome analysis revealed an extra segment added to the proximal short arm of chromosome 7. The G-band pattern was consistent with an inverted duplication of 7p11.2-p14.1. Fluorescent in situ hybridization (FISH), using a whole chromosome 7 DNA probe (Cytocell, Inc., UK), confirmed that the extra chromosome material is derived from chromosome 7, indicating that the patient is partially trisomic for a region of the short arm of chromosome 7. Partial duplication of the short arm of chromosome 7 is uncommon with little more than 30 cases in the literature. This is the first report of an individual with a 7p duplication who also has AD.
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Coleções:
01-internacional
Base de dados:
MEDLINE
Assunto principal:
Transtorno Autístico
/
Cromossomos Humanos Par 7
/
Duplicação Gênica
Limite:
Adult
/
Female
/
Humans
/
Male
/
Pregnancy
Idioma:
En
Revista:
Am J Med Genet
Ano de publicação:
2001
Tipo de documento:
Article
País de afiliação:
Estados Unidos