A Malay boy with the Cornelia de Lange syndrome: clinical and molecular findings.

Details

Serval ID
serval:BIB_285638136802
Type
Article: article from journal or magazin.
Publication sub-type
Case report (case report): feedback on an observation with a short commentary.
Collection
Publications
Title
A Malay boy with the Cornelia de Lange syndrome: clinical and molecular findings.
Journal
Singapore medical journal
Author(s)
Bhuiyan Z.A., Zilfalil B.A., Hennekam R.C.
ISSN
0037-5675 (Print)
ISSN-L
0037-5675
Publication state
Published
Issued date
08/2006
Peer-reviewed
Oui
Volume
47
Number
8
Pages
724-727
Language
english
Notes
Publication types: Case Reports ; Journal Article
Publication Status: ppublish
Abstract
The Cornelia de Lange syndrome is a multiple congenital anomaly syndrome characterised by dysmorphic facial features, hirsutism, severe growth and developmental delays, and malformed upper limbs. The prevalence is estimated to be one per 10,000. Recently, several independent groups proved that Cornelia de Lange syndrome is caused by mutations in the NIPBL gene, the human homologue of the Drosophila Nipped-B gene. Here, we present the first clinical case report of a Malay child, a 9-year-old boy with the Cornelia de Lange syndrome. We also report the molecular investigation of the NIPBL gene in this patient.

Keywords
Abnormalities, Multiple/diagnosis, Abnormalities, Multiple/genetics, Abnormalities, Multiple/physiopathology, Child, De Lange Syndrome/diagnosis, De Lange Syndrome/genetics, De Lange Syndrome/physiopathology, Humans, Malaysia, Male, Mutation, Polymorphism, Genetic
Pubmed
Create date
01/03/2018 15:36
Last modification date
20/08/2019 13:07
Usage data