ArticleAmerican journal of medical genetics. Part A2009
Narrowing critical regions and determining penetrance for selected 18q- phenotypes.
Article in American journal of medical genetics. Part A, 2009. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 27 papers.
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Who cites it
27 citing papers in PubMed, 90 citations in OpenAlex.
- Clinical and molecular characterization of 18p deletion syndrome and a novel case with reproductive disorder.Molecular cytogenetics · 2026Article
- Vertical inheritance and unique differential phenotypes of reciprocal recombinant chromosome 18 within a multi-generation family.European journal of human genetics : EJHG · 2026Article
- Long-read genome sequencing resolves complex genomic rearrangements in rare genetic syndromes.NPJ genomic medicine · 2024Article
- Imaging Findings and MRI Patterns in a Cohort of 18q Chromosomal Abnormalities.AJNR. American journal of neuroradiology · 2024Article
- 18q Deletion Syndrome Presenting with Late-Onset Combined Immunodeficiency.Journal of clinical immunology · 2024Article
- Terminal microdeletion of chromosome 18 in a Malaysian boy characterized with few features of typical 18q- deletion syndrome: a case report.Journal of medical case reports · 2023Article
- Case report: genetic analysis of a child with 18q deletion syndrome and developmental dysplasia of the hip.BMC medical genomics · 2022Article
- Diagnostic yield of exome sequencing in congenital vertical talus.European journal of medical genetics · 2022Article
- [Congenital hypopituitarism with monosomy of chromosome 18].Problemy endokrinologii · 2021Article
- Clinical and Cytogenomic Characterization of De Novo 11p14.3-p15.5 Duplication Associated with 18q23 Deletion in an Egyptian Female Infant.Journal of pediatric genetics · 2021Article
- Clinical Characteristics and Long-Term Recombinant Human Growth Hormone Treatment of 18q- Syndrome: A Case Report and Literature Review.Frontiers in endocrinology · 2021Review
- Immune Dysregulation in Patients With Chromosome 18q Deletions-Searching for Putative Loci for Autoimmunity and Immunodeficiency.Frontiers in immunology · 2021Article
- Chromosome 18 gene dosage map 2.0.Human genetics · 2018Article
- 18q22.1-qter deletion and 4p16.3 microduplication in a boy with speech delay and mental retardation: case report and review of the literature.Molecular cytogenetics · 2018Article
- Low-Level Chromosomal Mosaicism in Neurodevelopmental Disorders.Molecular syndromology · 2017Article
- Genetics and prospective therapeutic targets for Sjögren-Larsson Syndrome.Expert opinion on orphan drugs · 2016Article
- Adults with Chromosome 18 Abnormalities.Journal of genetic counseling · 2015Article
- Terminal 18q deletions are stabilized by neotelomeres.Molecular cytogenetics · 2015Article
- De novo dir dup/del of 18q characterized by SNP arrays and FISH in a girl child with mixed phenotypes.Journal of genetics · 2014Article
- Sensorineural hearing loss in people with deletions of 18q: hearing in 18q-.Otology & neurotology : official publication of the American Otological Society, American Neurotology Society [and] European Academy of Otology and Neurotology · 2014Article
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Authors and funding
16 authors at 2 institutions in 1 country.
Funding
Abstract
One of our primary goals is to help families who have a child with an 18q deletion anticipate medical issues in order to optimize their child's medical care. To this end we have narrowed the critical regions for four phenotypic features and determined the penetrance for each of those phenotypes when the critical region for that feature is hemizygous. We completed molecular analysis using oligo-array CGH and clinical assessments on 151 individuals with deletions of 18q and made genotype-phenotype correlations defining or narrowing critical regions. These nested regions, all within 18q22.3 to q23, were for kidney malformations, dysmyelination of the brain, growth hormone stimulation response failure, and aural atresia. The region for dysmyelination and growth hormone stimulation response failure were identical and was narrowed to 1.62 Mb, a region containing five known genes. The region for aural atresia was 2.3 Mb and includes an additional three genes. The region for kidney malformations was 3.21 Mb and includes an additional four genes. Penetrance rates were calculated by comparing the number of individuals hemizygous for a critical region with the phenotype to those without the phenotype. The kidney malformations region was 25% penetrant, the dysmyelination region was 100% penetrant, the growth hormone stimulant response failure region was 90% penetrant with variable expressivity, and the aural atresia region was 78% penetrant. Identification of these critical regions suggest possible candidate genes, while penetrance calculations begin to create a predictive phenotypic description based on genotype.
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