2015
DOI: 10.1038/gim.2014.184
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The clinical utility of molecular karyotyping for neurocognitive phenotypes in a consanguineous population

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Cited by 20 publications
(14 citation statements)
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“…Other investigators have described the occurrence of de novo variants in consanguineous populations. 2022 These findings support the hypothesis that recently arisen, private variants play a substantial role in human disease. 23 …”
Section: Discussionsupporting
confidence: 76%
“…Other investigators have described the occurrence of de novo variants in consanguineous populations. 2022 These findings support the hypothesis that recently arisen, private variants play a substantial role in human disease. 23 …”
Section: Discussionsupporting
confidence: 76%
“…Those with a 14q32 deletion are not described with a high‐pitched voice or eczema seen as early hallmark features of DS. Recently, in a large study of the use of molecular karyotyping in patients with consanguineous parents, another child was reported with a 14q32 deletion and “Dubowitz‐like” features, but limited information is available to draw further conclusions (Al‐Qattan et al, ). There are dozens of genes within the 14q32 region that are likely contributing to the phenotype, so it is difficult to define a clear genotype–phenotype correlation (Table ).…”
Section: Discussionmentioning
confidence: 99%
“…Karyotype revealed 46,XY,del(7)(p21), t(7;13)(q24.1;q22) whereas parental karyotypes were normal. Molecular karyotyping was performed as described previously [Al‐Qattan et al, ] and confirmed the unbalanced nature of the translocation and revealed a de novo deletion in 7p21.1–22.1 of 11,929 kb (5,798,163–17,727,264) spanning 53 genes, as well as a de novo deletion in chr7q31.31–q31.32 of 2,936 kb (118,692,690–121,628,842) spanning seven genes (Fig. C and Table S1).…”
Section: Clinical Reportsmentioning
confidence: 92%
“…As with other clinically and genetically heterogeneous disorders, the challenge in predicting the underlying mutation based solely on clinical appearance can be significant and calls for diagnostic tools that are comprehensive and agnostic to the phenotype. Molecular karyotyping is one such tool that scans the genome at an ever increasing resolution for copy number aberrations that can cause diseases along the entire phenotypic spectrum [Al‐Qattan et al, ]. This tool is now the recommended first–tier test for children with unexplained cognitive impairment or multiple malformations [Miller et al, ].…”
Section: Introductionmentioning
confidence: 99%