The association of the DiGeorge anomalad with partial monosomy of chromosome 22.
J Pediatr
; 101(2): 197-200, 1982 Aug.
Article
em En
| MEDLINE
| ID: mdl-7097410
ABSTRACT
We have seen three unrelated patients with the DiGeorge anomalad who also had the same deletion of chromosome 22 (pter leads to qll). In each, the remaining long arm material (qll leads to qter) was translocated to a different autosome. Our patients and a review of the literature, including a recent report of a family having four infants with the DiGeorge anomalad and the same deletion of chromosome 22 (de la Chapelle et al Hum Genet 57253, 1981), make a strong argument for at least some cases of the DiGeorge anomalad arising from a deletion of the pericentromeric region of chromosome 22.
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Coleções:
01-internacional
Base de dados:
MEDLINE
Assunto principal:
Deleção Cromossômica
/
Cromossomos Humanos 21-22 e Y
/
Síndrome de DiGeorge
/
Síndromes de Imunodeficiência
Tipo de estudo:
Risk_factors_studies
Limite:
Female
/
Humans
/
Male
/
Newborn
Idioma:
En
Ano de publicação:
1982
Tipo de documento:
Article