1433240

Source:http://linkedlifedata.com/resource/pubmed/id/1433240

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Predicate	Object
rdf:type	pubmed:Citation
lifeskim:mentions	umls-concept:C0175702, umls-concept:C1515568, umls-concept:C1549863, umls-concept:C2348519
pubmed:issue	10
pubmed:dateCreated	1992-11-27
pubmed:abstractText	We describe a female infant with mental retardation and some of the phenotypic features of Williams-Beuren syndrome. Chromosome analysis showed t(X;21)(q28;q11). Diagnosis, inactivation of the X chromosome, and possible involvement of the translocation breakpoints in the pathogenesis of this syndrome are discussed.
pubmed:commentsCorrections	http://linkedlifedata.com/resource/pubmed/commentcorrection/1433240-1245197, http://linkedlifedata.com/resource/pubmed/commentcorrection/1433240-13967885, http://linkedlifedata.com/resource/pubmed/commentcorrection/1433240-14007182, http://linkedlifedata.com/resource/pubmed/commentcorrection/1433240-157971, http://linkedlifedata.com/resource/pubmed/commentcorrection/1433240-2221973, http://linkedlifedata.com/resource/pubmed/commentcorrection/1433240-2706804, http://linkedlifedata.com/resource/pubmed/commentcorrection/1433240-2797983, http://linkedlifedata.com/resource/pubmed/commentcorrection/1433240-3537294, http://linkedlifedata.com/resource/pubmed/commentcorrection/1433240-3674117, http://linkedlifedata.com/resource/pubmed/commentcorrection/1433240-3783627, http://linkedlifedata.com/resource/pubmed/commentcorrection/1433240-4104656, http://linkedlifedata.com/resource/pubmed/commentcorrection/1433240-4117921, http://linkedlifedata.com/resource/pubmed/commentcorrection/1433240-4141698, http://linkedlifedata.com/resource/pubmed/commentcorrection/1433240-4943714, http://linkedlifedata.com/resource/pubmed/commentcorrection/1433240-5159532, http://linkedlifedata.com/resource/pubmed/commentcorrection/1433240-6723102, http://linkedlifedata.com/resource/pubmed/commentcorrection/1433240-6779759, http://linkedlifedata.com/resource/pubmed/commentcorrection/1433240-6982672, http://linkedlifedata.com/resource/pubmed/commentcorrection/1433240-7192194, http://linkedlifedata.com/resource/pubmed/commentcorrection/1433240-7456592, http://linkedlifedata.com/resource/pubmed/commentcorrection/1433240-8230171
pubmed:language	eng
pubmed:journal	http://linkedlifedata.com/resource/pubmed/journal/2985087R
pubmed:citationSubset	IM
pubmed:status	MEDLINE
pubmed:month	Oct
pubmed:issn	0022-2593
pubmed:author	pubmed-author:DulacOO, pubmed-author:FeingoldJJ, pubmed-author:IonRR, pubmed-author:NicoleAA, pubmed-author:PinardJ MJM, pubmed-author:PompidouAA, pubmed-author:PonsotGG, pubmed-author:SinghP SPS, pubmed-author:TelviLL
pubmed:issnType	Print
pubmed:volume	29
pubmed:owner	NLM
pubmed:authorsComplete	Y
pubmed:pagination	747-9
pubmed:dateRevised	2011-11-17
pubmed:meshHeading	pubmed-meshheading:1433240-Abnormalities, Multiple, pubmed-meshheading:1433240-Child, Preschool, pubmed-meshheading:1433240-Chromosomes, Human, Pair 21, pubmed-meshheading:1433240-Dosage Compensation, Genetic, pubmed-meshheading:1433240-Face, pubmed-meshheading:1433240-Female, pubmed-meshheading:1433240-Humans, pubmed-meshheading:1433240-Intellectual Disability, pubmed-meshheading:1433240-Phenotype, pubmed-meshheading:1433240-Syndrome, pubmed-meshheading:1433240-Translocation, Genetic, pubmed-meshheading:1433240-X Chromosome
pubmed:year	1992
pubmed:articleTitle	De novo t(X;21)(q28;q11) in a girl with phenotypic features of Williams-Beuren syndrome.
pubmed:affiliation	Service d'Histologie-Embryologie-Cytogénétique et Anatomie Pathologique, Hôpital Saint Vincent de Paul, Paris, France.
pubmed:publicationType	Journal Article, Case Reports