Source:http://linkedlifedata.com/resource/pubmed/id/17502991
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rdf:type | |
lifeskim:mentions | |
pubmed:issue |
6
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pubmed:dateCreated |
2007-5-28
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pubmed:abstractText |
We describe three patients with retinoblastoma, dysmorphic features and developmental delay. Patients 1 and 2 have high and broad forehead, deeply grooved philtrum, thick anteverted lobes and thick helix. Patient 1 also has dolicocephaly, sacral pit/dimple and toe crowding; patient 2 shows intrauterine growth retardation and short fifth toe. Both patients have partial agenesis of corpus callosum. Patient 3 has growth retardation, microcephaly, thick lower lip and micrognathia. Using array-comparative genomic hybridization (CGH), we identified a 13q14 de novo deletion in patients 1 and 2, while patient 3 had a 7q11.21 maternally inherited deletion, probably not related to the disease. Our results confirm that a distinct facial phenotype is related to a 13q14 deletion. Patients with retinoblastoma and malformations without a peculiar facial phenotype may have a different deletion syndrome or a casual association of mental retardation and retinoblastoma. Using array-CGH, we defined a critical region for mental retardation and dysmorphic features. We compared this deletion with a smaller one in a patient with retinoblastoma (case 4) and identified two distinct critical regions, containing 30 genes. Four genes appear to be good functional candidates for the neurological phenotype: NUFIP1 (nuclear fragile X mental retardation protein 1), HTR2A (serotonin receptor 2A), PCDH8 (prothocaderin 8) and PCDH17 (prothocaderin 17).
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pubmed:language |
eng
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pubmed:journal | |
pubmed:citationSubset |
IM
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pubmed:status |
MEDLINE
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pubmed:issn |
1434-5161
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pubmed:author |
pubmed-author:AcquavivaAA,
pubmed-author:BruttiniMM,
pubmed-author:CaselliRR,
pubmed-author:De FrancescoSS,
pubmed-author:FrezzottiRR,
pubmed-author:HadjistilianouTT,
pubmed-author:LongoII,
pubmed-author:PEAKH JHJ,
pubmed-author:PescucciCC,
pubmed-author:PramparoTT,
pubmed-author:RenieriAA,
pubmed-author:SampieriKK,
pubmed-author:SpecialeCC,
pubmed-author:UlianaVV,
pubmed-author:ZuffardiOO
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pubmed:issnType |
Print
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pubmed:volume |
52
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pubmed:owner |
NLM
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pubmed:authorsComplete |
Y
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pubmed:pagination |
535-42
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pubmed:dateRevised |
2011-11-17
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pubmed:meshHeading |
pubmed-meshheading:17502991-Abnormalities, Multiple,
pubmed-meshheading:17502991-Child,
pubmed-meshheading:17502991-Child, Preschool,
pubmed-meshheading:17502991-Chromosome Deletion,
pubmed-meshheading:17502991-Developmental Disabilities,
pubmed-meshheading:17502991-Female,
pubmed-meshheading:17502991-Humans,
pubmed-meshheading:17502991-Infant,
pubmed-meshheading:17502991-Intellectual Disability,
pubmed-meshheading:17502991-Male,
pubmed-meshheading:17502991-Microcephaly,
pubmed-meshheading:17502991-Polymerase Chain Reaction,
pubmed-meshheading:17502991-Retinal Neoplasms,
pubmed-meshheading:17502991-Retinoblastoma,
pubmed-meshheading:17502991-Syndrome
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pubmed:year |
2007
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pubmed:articleTitle |
Retinoblastoma and mental retardation microdeletion syndrome: clinical characterization and molecular dissection using array CGH.
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pubmed:affiliation |
Medical Genetics, Department of Molecular Biology, University of Siena, Policlinico Le Scotte, V.le Bracci 2, 53100, Siena, Italy.
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pubmed:publicationType |
Journal Article,
Case Reports,
Research Support, Non-U.S. Gov't
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