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rdf:type |
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lifeskim:mentions |
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pubmed:issue |
7
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pubmed:dateCreated |
2007-8-1
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pubmed:abstractText |
Williams-Beuren syndrome is among the most well-characterized microdeletion syndromes, caused by recurrent de novo microdeletions at 7q11.23 mediated by nonallelic homologous recombination between low copy repeats flanking this critical region. However, the clinical phenotype associated with reciprocal microduplication of this genomic region is less well described. We investigated the molecular, clinical, neurodevelopmental, and behavioral features of seven patients with dup(7)(q11.23), including two children who inherited the microduplication from one of their parents, to more fully characterize this emerging microduplication syndrome.
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pubmed:grant |
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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:status |
MEDLINE
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pubmed:month |
Jul
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pubmed:issn |
1098-3600
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pubmed:author |
pubmed-author:BeaudetArthur LAL,
pubmed-author:BergJonathan SJS,
pubmed-author:BlazoMaria AMA,
pubmed-author:Brunetti-PierriNicolaN,
pubmed-author:CheungSau WaiSW,
pubmed-author:ClarkGary DGD,
pubmed-author:CunniffChristopherC,
pubmed-author:EricksonRobert PRP,
pubmed-author:FongChin-toCT,
pubmed-author:FreedenbergDebraD,
pubmed-author:GundersonKevin LKL,
pubmed-author:HannigVickie LVL,
pubmed-author:HarrisDavid JDJ,
pubmed-author:KangSung-Hae LSH,
pubmed-author:LupskiJames RJR,
pubmed-author:MillerDavid TDT,
pubmed-author:PatelAnkitaA,
pubmed-author:PeifferDaniel ADA,
pubmed-author:PetersSarika USU,
pubmed-author:ProckLisa AlbersLA,
pubmed-author:RaffalliPeterP,
pubmed-author:SahooTrilochanT,
pubmed-author:SalamoneJessicaJ
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pubmed:issnType |
Print
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pubmed:volume |
9
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pubmed:owner |
NLM
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pubmed:authorsComplete |
Y
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pubmed:pagination |
427-41
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pubmed:dateRevised |
2007-12-3
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pubmed:meshHeading |
pubmed-meshheading:17666889-Adult,
pubmed-meshheading:17666889-Autistic Disorder,
pubmed-meshheading:17666889-Child,
pubmed-meshheading:17666889-Child, Preschool,
pubmed-meshheading:17666889-Child Behavior,
pubmed-meshheading:17666889-Chromosome Aberrations,
pubmed-meshheading:17666889-Chromosomes, Human, Pair 7,
pubmed-meshheading:17666889-Female,
pubmed-meshheading:17666889-Humans,
pubmed-meshheading:17666889-Language Development Disorders,
pubmed-meshheading:17666889-Male,
pubmed-meshheading:17666889-Nucleic Acid Hybridization,
pubmed-meshheading:17666889-Oligonucleotide Array Sequence Analysis,
pubmed-meshheading:17666889-Quantitative Trait Loci,
pubmed-meshheading:17666889-Social Behavior,
pubmed-meshheading:17666889-Williams Syndrome
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pubmed:year |
2007
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pubmed:articleTitle |
Speech delay and autism spectrum behaviors are frequently associated with duplication of the 7q11.23 Williams-Beuren syndrome region.
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pubmed:affiliation |
Department of Molecular and Human Genetics, Baylor College of Medicine and Texas Children's Hospital, Houston, Texas 77030, USA.
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pubmed:publicationType |
Journal Article,
Case Reports,
Research Support, Non-U.S. Gov't,
Research Support, N.I.H., Extramural
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