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

Détails

ID Serval
serval:BIB_285638136802
Type
Article: article d'un périodique ou d'un magazine.
Sous-type
Etude de cas (case report): rapporte une observation et la commente brièvement.
Collection
Publications
Titre
A Malay boy with the Cornelia de Lange syndrome: clinical and molecular findings.
Périodique
Singapore medical journal
Auteur(s)
Bhuiyan Z.A., Zilfalil B.A., Hennekam R.C.
ISSN
0037-5675 (Print)
ISSN-L
0037-5675
Statut éditorial
Publié
Date de publication
08/2006
Peer-reviewed
Oui
Volume
47
Numéro
8
Pages
724-727
Langue
anglais
Notes
Publication types: Case Reports ; Journal Article
Publication Status: ppublish
Résumé
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.

Mots-clé
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
Création de la notice
01/03/2018 16:36
Dernière modification de la notice
20/08/2019 14:07
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