ArticleGenetics in medicine : official journal of the American College of Medical Genetics2015
The clinical utility of molecular karyotyping for neurocognitive phenotypes in a consanguineous population.
Article in Genetics in medicine : official journal of the American College of Medical Genetics, 2015. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 12 papers, 1 of them a synthesis that pooled it.
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Who cites it
12 citing papers in PubMed, 1 synthesis or guideline pooled it, 25 citations in OpenAlex.
- 46,XY DSD with Partial Gonadal Dysgenesis and Growth Failure in a Patient with 3q27.1 Microdeletion: Candidate Gene Curation After Exhaustive Literature Review.International journal of molecular sciences · 2026Pooled it
- Clinical utility of runs of homozygosity in the identification of genetic causes in individuals with rare diseases.Genetics in medicine open · 2025Article
- Beyond the exome: utility of long-read whole genome sequencing in exome-negative autosomal recessive diseases.Genome medicine · 2023Article
- Multivariate piecewise linear regression model to predict radiosensitivity using the association with the genome-wide copy number variation.Frontiers in oncology · 2023Article
- Recessive multiple epiphyseal dysplasia and Stargardt disease in two sisters.Molecular genetics & genomic medicine · 2021Article
- Long contiguous stretches of homozygosity detected by chromosomal microarrays (CMA) in patients with neurodevelopmental disorders in the South of Brazil.BMC medical genomics · 2019Article
- The Cytoscan HD Array in the Diagnosis of Neurodevelopmental Disorders.High-throughput · 2018Review
- Clinical genomics expands the morbid genome of intellectual disability and offers a high diagnostic yield.Molecular psychiatry · 2017Article
- Resolution of Disease Phenotypes Resulting from Multilocus Genomic Variation.The New England journal of medicine · 2017Article
- Article
- A null mutation in TNIK defines a novel locus for intellectual disability.Human genetics · 2016Article
- Comprehensive gene panels provide advantages over clinical exome sequencing for Mendelian diseases.Genome biology · 2015Article
Corrections and comments
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Authors and funding
17 authors at 3 institutions in 2 countries.
Funding
No grant is acknowledged in the PubMed record.
Abstract
purposeMolecular karyotyping has rapidly become the test of choice in patients with neurocognitive phenotypes, but studies of its clinical utility have largely been limited to outbred populations. In consanguineous populations, single-gene recessive causes of neurocognitive phenotypes are expected to account for a relatively high percentage of cases, thus diminishing the yield of molecular karyotyping. The aim of this study was to test the clinical yield of molecular karyotyping in the highly consanguineous population of Saudi Arabia.
methodsWe have reviewed the data of 584 patients with neurocognitive phenotypes (mainly referred from pediatric neurology clinics), all evaluated by a single clinical geneticist.
resultsAt least 21% of tested cases had chromosomal aberrations that are likely disease-causing. These changes include both known and novel deletion syndromes. The higher yield of molecular karyotyping in this study as compared with the commonly cited 11% can be explained by our ability to efficiently identify single-gene disorders, thus enriching the samples that underwent molecular karyotyping for de novo chromosomal aberrations. We show that we were able to identify a causal mutation in 37% of cases on a clinical basis with the help of autozygome analysis, thus bypassing the need for molecular karyotyping.
conclusionOur study confirms the clinical utility of molecular karyotyping even in highly consanguineous populations.
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