Currarino triad with a terminal deletion 7q35-->qter.
AUTOR(ES)
Masuno, M
RESUMO
We describe a de novo terminal deletion of the long arm of chromosome 7 in a 5 year old girl with the Currarino triad, characterised by congenital anorectal stenosis, a sacral defect, and a presacral mass. Recently, this autosomal dominant trait has been shown to be linked to 7q36, the same region as holoprosencephaly (HPE3). The cytogenetic findings in the present patient with the Currarino triad provided further evidence that a gene(s) for the Currarino triad is located in the 7 q terminal segment.
ACESSO AO ARTIGO
http://www.pubmedcentral.nih.gov/articlerender.fcgi?artid=1050771Documentos Relacionados
- Holoprosencephaly and sacral agenesis in a fetus with a terminal deletion 7q36-->7qter.
- A case of deletion 2q35----qter and a peculiar phenotype.
- An interstitial deletion of chromosome 7(q35).
- A family with three independent autosomal translocations associated with 7q32----7qter syndrome.
- Tandem duplication of the terminal band of the long arm of chromosome 7 (dir dup (7)(q36----qter)).