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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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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container_end_page e128
container_issue 12
container_start_page e128
container_title Journal of medical genetics
container_volume 41
creator Borck, G
Redon, R
Sanlaville, D
Rio, M
Prieur, M
Lyonnet, S
Vekemans, M
Carter, N P
Munnich, A
Colleaux, L
Cormier-Daire, V
description 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.
doi_str_mv 10.1136/jmg.2004.026666
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Redon, R ; Sanlaville, D ; Rio, M ; Prieur, M ; Lyonnet, S ; Vekemans, M ; Carter, N P ; Munnich, A ; Colleaux, L ; Cormier-Daire, V</creator><creatorcontrib>Borck, G ; Redon, R ; Sanlaville, D ; Rio, M ; Prieur, M ; Lyonnet, S ; Vekemans, M ; Carter, N P ; Munnich, A ; Colleaux, L ; Cormier-Daire, V</creatorcontrib><description>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.</description><identifier>ISSN: 0022-2593</identifier><identifier>ISSN: 1468-6244</identifier><identifier>EISSN: 1468-6244</identifier><identifier>DOI: 10.1136/jmg.2004.026666</identifier><identifier>PMID: 15591270</identifier><identifier>CODEN: JMDGAE</identifier><language>eng</language><publisher>England: BMJ Publishing Group Ltd</publisher><subject>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 &amp; 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</subject><ispartof>Journal of medical genetics, 2004-12, Vol.41 (12), p.e128-e128</ispartof><rights>Copyright 2004 Journal of Medical Genetics</rights><rights>Copyright: 2004 Copyright 2004 Journal of Medical Genetics</rights><lds50>peer_reviewed</lds50><oa>free_for_read</oa><woscitedreferencessubscribed>false</woscitedreferencessubscribed><citedby>FETCH-LOGICAL-b558t-1543c1f303396bc4e77fc86257fbc58a94fe77587b19087e607c92ff28f868c73</citedby></display><links><openurl>$$Topenurl_article</openurl><openurlfulltext>$$Topenurlfull_article</openurlfulltext><thumbnail>$$Tsyndetics_thumb_exl</thumbnail><linktopdf>$$Uhttps://www.ncbi.nlm.nih.gov/pmc/articles/PMC1735640/pdf/$$EPDF$$P50$$Gpubmedcentral$$H</linktopdf><linktohtml>$$Uhttps://www.ncbi.nlm.nih.gov/pmc/articles/PMC1735640/$$EHTML$$P50$$Gpubmedcentral$$H</linktohtml><link.rule.ids>230,314,727,780,784,885,27924,27925,53791,53793</link.rule.ids><backlink>$$Uhttps://www.ncbi.nlm.nih.gov/pubmed/15591270$$D View this record in MEDLINE/PubMed$$Hfree_for_read</backlink></links><search><creatorcontrib>Borck, G</creatorcontrib><creatorcontrib>Redon, R</creatorcontrib><creatorcontrib>Sanlaville, D</creatorcontrib><creatorcontrib>Rio, M</creatorcontrib><creatorcontrib>Prieur, M</creatorcontrib><creatorcontrib>Lyonnet, S</creatorcontrib><creatorcontrib>Vekemans, M</creatorcontrib><creatorcontrib>Carter, N P</creatorcontrib><creatorcontrib>Munnich, A</creatorcontrib><creatorcontrib>Colleaux, L</creatorcontrib><creatorcontrib>Cormier-Daire, V</creatorcontrib><title>NIPBL mutations and genetic heterogeneity in Cornelia de Lange syndrome</title><title>Journal of medical genetics</title><addtitle>J Med Genet</addtitle><description>Cornelia de Lange syndrome (CdLS, also called Brachmann de Lange syndrome; 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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
title NIPBL mutations and genetic heterogeneity in Cornelia de Lange syndrome
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