2005
DOI: 10.1086/427762
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Abstract: We have used array comparative genomic hybridization to map DNA copy-number changes in 94 patients with cri du chat syndrome who had been carefully evaluated for the presence of the characteristic cry, speech delay, facial dysmorphology, and level of mental retardation (MR). Most subjects had simple deletions involving 5p (67 terminal and 12 interstitial). Genotype-phenotype correlations localized the region associated with the cry to 1.5 Mb in distal 5p15.31, between bacterial artificial chromosomes (BACs) co… Show more

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Cited by 124 publications
(132 citation statements)
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“…As formal assessment of ID was not possible, we used a description of developmental milestones and abilities to evaluate severity of ID, as previously described. 20 A detailed pedigree was constructed, and the genealogical relationship within families was crosschecked by interviewing different family members. Blood probes were drawn, and DNA was isolated from all available individuals.…”
Section: Methodsmentioning
confidence: 99%
“…As formal assessment of ID was not possible, we used a description of developmental milestones and abilities to evaluate severity of ID, as previously described. 20 A detailed pedigree was constructed, and the genealogical relationship within families was crosschecked by interviewing different family members. Blood probes were drawn, and DNA was isolated from all available individuals.…”
Section: Methodsmentioning
confidence: 99%
“…The cri du chat syndrome is associated with deletions of chromosome 5p. Loss of Ctnnd2, encoding ␦-catenin, correlates with intellectual disability (17)(18)(19) in the cri du chat syndrome. Interestingly, a partial duplication of Ctnnd2 in an individual with the cri du chat syndrome with deletion of Ctnnd2 in the chromosomal deletion associated with the syndrome leads to a milder cognitive phenotype, further supporting a key role for ␦-catenin in the intellectual disability associated with this syndrome (20).…”
mentioning
confidence: 99%
“…The analytical performance of selective microdeletions/duplications and trisomy 16/22, was > 99% regarding specificity, while sensitivity was 60-86% for 3-6 Mb deletions, 85-90% for 7-11 Mb deletions and > 99% for trisomy 16/22 [30,58]. Other studies relieved that the non-reportable rate for this test is 0.9% [11,59,60].…”
Section: Maternit21 Plus (Sequenom Laboratories)mentioning
confidence: 86%