NIPBL mutations and genetic heterogeneity in Cornelia de Lange syndrome

Cornelia de Lange syndrome (CdLS, also called Brachmann de Lange syndrome; OMIM 122470) is characterised by pre- and postnatal growth retardation, microcephaly, severe mental retardation with speech delay, feeding problems, major malformations including limb defects, and characteristic facial featur...

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Bibliographic Details
Published in:Journal of medical genetics 2004-12, Vol.41 (12), p.e128-e128
Main Authors: Borck, G, Redon, R, Sanlaville, D, Rio, M, Prieur, M, Lyonnet, S, Vekemans, M, Carter, N P, Munnich, A, Colleaux, L, Cormier-Daire, V
Format: Article
Language:English
Subjects:
6′-diamidino-2-phenylindole
Adolescent
Adult
array-CGH
Brachmann de Lange syndrome
CdLS
Child
Child, Preschool
Chromosome Aberrations
Chromosomes
Chromosomes, Human, Pair 18
Cornelia de Lange syndrome
Cytogenetic Analysis
DAPI
De Lange Syndrome - genetics
Families & family life
Female
Follow-Up Studies
Gastroesophageal reflux
Genes
Genetic Heterogeneity
Humans
Infant
Intellectual disabilities
isochromosome 18p
Karyotyping
Male
Mutation
NIPBL
Online Mutation Report
Parents
Patients
Proteins - genetics
Speech
subtelomeric deletion
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Description
Summary:Cornelia de Lange syndrome (CdLS, also called Brachmann de Lange syndrome; OMIM 122470) is characterised by pre- and postnatal growth retardation, microcephaly, severe mental retardation with speech delay, feeding problems, major malformations including limb defects, and characteristic facial features. 1 Facial dysmorphism includes arched eyebrows, synophrys, short nose with anteverted nares, long philtrum, thin upper lip, and micrognathia.
ISSN:0022-2593
1468-6244
1468-6244
DOI:10.1136/jmg.2004.026666