Complete maternal isodisomy of chromosome 8 in an individual with an early-onset ileal carcinoid tumor.
Am J Med Genet
; 93(3): 207-10, 2000 Jul 31.
Article
em En
| MEDLINE
| ID: mdl-10925383
ABSTRACT
Uniparental disomy (UPD) is a condition in which diploid individuals possess a chromosome pair from a single parent. In some instances, UPD causes an abnormal phenotype due to imprinting effects, reduction to homozygosity at recessive disease loci, or trisomy mosaicism. Here we report the first account of an individual with apparently nonmosaic complete maternal isodisomy of chromosome 8. This individual was identified during routine genotyping in a genomewide search for type 2 diabetes susceptibility genes, although he does not have diabetes. He is of normal appearance, stature, and intelligence, but there is an unusual history of early onset ileal carcinoid. The discovery of other maternal UPD 8 cases will be necessary to define whether this condition causes a distinct phenotype.
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Coleções:
01-internacional
Base de dados:
MEDLINE
Assunto principal:
Cromossomos Humanos Par 8
/
Tumor Carcinoide
/
Aberrações Cromossômicas
/
Neoplasias do Íleo
Tipo de estudo:
Prognostic_studies
Limite:
Adult
/
Female
/
Humans
/
Male
Idioma:
En
Revista:
Am J Med Genet
Ano de publicação:
2000
Tipo de documento:
Article
País de afiliação:
Estados Unidos