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rdf:type |
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lifeskim:mentions |
umls-concept:C0008625,
umls-concept:C0040715,
umls-concept:C0185027,
umls-concept:C0205415,
umls-concept:C0596790,
umls-concept:C0599718,
umls-concept:C0599813,
umls-concept:C0599893,
umls-concept:C0684224,
umls-concept:C1314939,
umls-concept:C1428073,
umls-concept:C1442161,
umls-concept:C1522702
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pubmed:issue |
3
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pubmed:dateCreated |
2010-2-18
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pubmed:abstractText |
Interstitial deletions of chromosome band 10q22 are rare. We report on the characterization of three overlapping de novo 10q22 deletions by high-resolution array comparative genomic hybridization in three unrelated patients. Patient 1 had a 7.9 Mb deletion in 10q21.3-q22.2 and suffered from severe feeding problems, facial dysmorphisms and profound mental retardation. Patients 2 and 3 had nearly identical deletions of 3.2 and 3.6 Mb, the proximal breakpoints of which were located at an identical low-copy repeat. Both patients were mentally retarded; patient 3 also suffered from growth retardation and hypotonia. We also report on the results of breakpoint analysis by array painting in a mentally retarded patient with a balanced chromosome translocation 46,XY,t(10;13)(q22;p13)dn. The breakpoint in 10q22 was found to disrupt C10orf11, a brain-expressed gene in the common deleted interval of patients 1-3. This finding suggests that haploinsufficiency of C10orf11 contributes to the cognitive defects in 10q22 deletion patients.
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pubmed:commentsCorrections |
http://linkedlifedata.com/resource/pubmed/commentcorrection/19844253-10554166,
http://linkedlifedata.com/resource/pubmed/commentcorrection/19844253-11815424,
http://linkedlifedata.com/resource/pubmed/commentcorrection/19844253-14764619,
http://linkedlifedata.com/resource/pubmed/commentcorrection/19844253-15807904,
http://linkedlifedata.com/resource/pubmed/commentcorrection/19844253-16444292,
http://linkedlifedata.com/resource/pubmed/commentcorrection/19844253-16619204,
http://linkedlifedata.com/resource/pubmed/commentcorrection/19844253-17124407,
http://linkedlifedata.com/resource/pubmed/commentcorrection/19844253-17436248,
http://linkedlifedata.com/resource/pubmed/commentcorrection/19844253-18326688,
http://linkedlifedata.com/resource/pubmed/commentcorrection/19844253-18636632,
http://linkedlifedata.com/resource/pubmed/commentcorrection/19844253-19039520,
http://linkedlifedata.com/resource/pubmed/commentcorrection/19844253-9950372
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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 |
Mar
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pubmed:issn |
1476-5438
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pubmed:author |
pubmed-author:AhmedAlischoA,
pubmed-author:BisgaardAnne-MarieAM,
pubmed-author:ErdoganFikretF,
pubmed-author:Graul-NeumannLuitgard MLM,
pubmed-author:KalscheuerVera MVM,
pubmed-author:KirchhoffMariaM,
pubmed-author:MüllerInesI,
pubmed-author:NeitzelHeidemarieH,
pubmed-author:PageStephanieS,
pubmed-author:RopersHans-HilgerHH,
pubmed-author:TzschachAndreasA,
pubmed-author:UllmannReinhardR
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pubmed:issnType |
Electronic
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pubmed:volume |
18
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pubmed:owner |
NLM
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pubmed:authorsComplete |
Y
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pubmed:pagination |
291-5
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pubmed:dateRevised |
2011-7-25
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pubmed:meshHeading |
pubmed-meshheading:19844253-Child, Preschool,
pubmed-meshheading:19844253-Chromosome Aberrations,
pubmed-meshheading:19844253-Chromosome Deletion,
pubmed-meshheading:19844253-Chromosomes, Human, Pair 10,
pubmed-meshheading:19844253-Chromosomes, Human, Pair 13,
pubmed-meshheading:19844253-Comparative Genomic Hybridization,
pubmed-meshheading:19844253-Facies,
pubmed-meshheading:19844253-Female,
pubmed-meshheading:19844253-Genome, Human,
pubmed-meshheading:19844253-Humans,
pubmed-meshheading:19844253-Infant,
pubmed-meshheading:19844253-Infant, Newborn,
pubmed-meshheading:19844253-Internet,
pubmed-meshheading:19844253-Male,
pubmed-meshheading:19844253-Pregnancy,
pubmed-meshheading:19844253-Translocation, Genetic
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pubmed:year |
2010
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pubmed:articleTitle |
Chromosome aberrations involving 10q22: report of three overlapping interstitial deletions and a balanced translocation disrupting C10orf11.
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pubmed:affiliation |
Department Human Molecular Genetics, Max Planck Institute for Molecular Genetics, Berlin, Germany. tzschach@molgen.mpg.de
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pubmed:publicationType |
Journal Article,
Case Reports,
Research Support, Non-U.S. Gov't
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