A Malay boy with the Cornelia de Lange syndrome: clinical and molecular findings.
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.
Bhuiyan
Z A
ZA
Department of Clinical Genetics, Academic Medical Centre, University of Amsterdam, Meibergdreef 15, 1105 AZ, The Netherlands. z.a.bhuiyan@amc.uva.nl
Zilfalil
B A
BA
Hennekam
R C M
RC
D000015:Abnormalities, Multiple / Q000175:diagnosis* / Q000235:genetics / Q000503:physiopathology; D002648:Child; D003635:De Lange Syndrome / Q000175:diagnosis* / Q000235:genetics / Q000503:physiopathology; D006801:Humans; D008296:Malaysia; D008297:Male; D009154:Mutation; D011110:Polymorphism, Genetic