Interstitial deletion 1p in a 30 year old woman.
AUTOR(ES)
Petersen, M B
RESUMO
High resolution chromosome analysis showed the karyotype 46,XX,del(1)(p22.1 p31.2) in a 30 year old woman with psychomotor retardation and various malformations. Determination of the enzyme phosphoglucomutase 1 (PGM1) showed that she was a heterozygote. Three other cases of interstitial deletion 1p have been reported previously, and one of these cases had several features in common with our case, suggesting a distinct syndrome.
ACESSO AO ARTIGO
http://www.pubmedcentral.nih.gov/articlerender.fcgi?artid=1050002Documentos Relacionados
- Cystic fibrosis in a 70 year old woman.
- Type 1 Arnold-Chiari malformation in a 77 year old woman.
- Hypoplastic right heart complex in a 46-year-old woman.
- Successful operation on a coronary arteriovenous fistula in a 74 year old woman.
- Progressive ataxia, focal seizures, and malabsorption syndrome in a 41 year old woman.