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rdf:type |
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lifeskim:mentions |
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pubmed:issue |
9
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pubmed:dateCreated |
2006-8-30
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pubmed:abstractText |
Submicroscopic genomic copy number changes have been identified only recently as an important cause of mental retardation. We describe the detection of three interstitial, overlapping 17q21.31 microdeletions in a cohort of 1,200 mentally retarded individuals associated with a clearly recognizable clinical phenotype of mental retardation, hypotonia and a characteristic face. The deletions encompass the MAPT and CRHR1 genes and are associated with a common inversion polymorphism.
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pubmed:commentsCorrections |
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pubmed:language |
eng
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pubmed:journal |
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pubmed:citationSubset |
IM
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pubmed:chemical |
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pubmed:status |
MEDLINE
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pubmed:month |
Sep
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pubmed:issn |
1061-4036
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pubmed:author |
pubmed-author:AnderlidBritt-MarieBM,
pubmed-author:BaumerAlessandraA,
pubmed-author:BrunnerHan GHG,
pubmed-author:FicheraMarcoM,
pubmed-author:KnightSamantha J LSJ,
pubmed-author:KnoersNine VNV,
pubmed-author:KoolenDavid ADA,
pubmed-author:KooyR FrankRF,
pubmed-author:PfundtRolphR,
pubmed-author:ReganReginaR,
pubmed-author:ReyniersEdwinE,
pubmed-author:RomanoCorradoC,
pubmed-author:SchinzelAlbertA,
pubmed-author:SchoumansJacquelineJ,
pubmed-author:SistermansErik AEA,
pubmed-author:VeltmanJoris AJA,
pubmed-author:VissersLisenka E L MLE,
pubmed-author:de LeeuwNicoleN,
pubmed-author:de VriesBert B ABB,
pubmed-author:van KesselAd GeurtsAG
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pubmed:issnType |
Print
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pubmed:volume |
38
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pubmed:owner |
NLM
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pubmed:authorsComplete |
Y
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pubmed:pagination |
999-1001
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pubmed:dateRevised |
2011-11-17
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pubmed:meshHeading |
pubmed-meshheading:16906164-Adolescent,
pubmed-meshheading:16906164-Adult,
pubmed-meshheading:16906164-Brain,
pubmed-meshheading:16906164-Child, Preschool,
pubmed-meshheading:16906164-Chromosome Deletion,
pubmed-meshheading:16906164-Chromosome Inversion,
pubmed-meshheading:16906164-Chromosomes, Human, Pair 17,
pubmed-meshheading:16906164-Cohort Studies,
pubmed-meshheading:16906164-Face,
pubmed-meshheading:16906164-Female,
pubmed-meshheading:16906164-Gene Dosage,
pubmed-meshheading:16906164-Gene Frequency,
pubmed-meshheading:16906164-Haplotypes,
pubmed-meshheading:16906164-Humans,
pubmed-meshheading:16906164-Intellectual Disability,
pubmed-meshheading:16906164-Magnetic Resonance Imaging,
pubmed-meshheading:16906164-Male,
pubmed-meshheading:16906164-Muscle Hypotonia,
pubmed-meshheading:16906164-Physical Chromosome Mapping,
pubmed-meshheading:16906164-Polymorphism, Genetic,
pubmed-meshheading:16906164-Prevalence,
pubmed-meshheading:16906164-Receptors, Corticotropin-Releasing Hormone,
pubmed-meshheading:16906164-Syndrome,
pubmed-meshheading:16906164-tau Proteins
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pubmed:year |
2006
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pubmed:articleTitle |
A new chromosome 17q21.31 microdeletion syndrome associated with a common inversion polymorphism.
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pubmed:affiliation |
Department of Human Genetics, Nijmegen Centre for Molecular Life Sciences, Radboud University Nijmegen Medical Centre, 6500 HB Nijmegen, The Netherlands.
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pubmed:publicationType |
Journal Article,
Comparative Study,
Research Support, Non-U.S. Gov't
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