Craniosynostosis in a patient with a de novo 15q15-q22 deletion.
Am J Med Genet A
; 146A(11): 1462-5, 2008 Jun 01.
Article
em En
| MEDLINE
| ID: mdl-18449934
ABSTRACT
Interstitial deletions involving the chromosomal band 15q15 are very rare. A total of five cases were previously reported. Here another case of a 15q15.2-q22.2 deletion is reported, presenting with severe craniosynostosis of coronary, metopic, and sagittal sutures. The chromosome 15 with the 17.7-Mb deletion was of the paternal origin. A critical region for craniosynostosis may be located at the 734-kb segment at 15q15.2. Interestingly, the entire FBN1 gene was deleted in this patient.
Texto completo:
1
Base de dados:
MEDLINE
Assunto principal:
Cromossomos Humanos Par 5
/
Deleção Cromossômica
/
Craniossinostoses
Tipo de estudo:
Etiology_studies
Limite:
Female
/
Humans
/
Infant
Idioma:
En
Ano de publicação:
2008
Tipo de documento:
Article