ArticleHuman mutation2009
SNP array mapping of chromosome 20p deletions: genotypes, phenotypes, and copy number variation.
Article in Human mutation, 2009. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 27 papers, 1 of them a synthesis that pooled it.
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Trials whose registry record cites this paper, or whose number appears in the abstract. A trial that started after this paper was published is citing it as background, not reporting it.
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Who cites it
27 citing papers in PubMed, 1 synthesis or guideline pooled it, 66 citations in OpenAlex.
- Systematic Review: The Epidemiology, Natural History, and Burden of Alagille Syndrome.Journal of pediatric gastroenterology and nutrition · 2018Pooled it
- Phenotypic Divergence of JAG1- and NOTCH2-Associated Alagille Syndrome & Disease-Specific NOTCH2 Variant Classification Guidelines.Liver international : official journal of the International Association for the Study of the Liver · 2025Article
- Patent ductus arteriosus in a late preterm neonate: think congenital hypopituitarism.BMJ case reports · 2022Article
- Additional Evidence for Neuropsychiatric Manifestations in Mosaic Trisomy 20: A Case Report and Brief Review.Children (Basel, Switzerland) · 2021Article
- Characterization of the Spectrum of Ophthalmic Changes in Patients With Alagille Syndrome.Investigative ophthalmology & visual science · 2021Observational
- Two Novel Mutations in theDiagnostics (Basel, Switzerland) · 2021Article
- 20p11.23-p11.21 deletion in a child with hyperinsulinemic hypoglycemia and GH deficiency: A case report.Clinical pediatric endocrinology : case reports and clinical investigations : official journal of the Japanese Society for Pediatric Endocrinology · 2021Article
- Alagille Syndrome: Diagnostic Challenges and Advances in Management.Diagnostics (Basel, Switzerland) · 2020Review
- Haploinsufficiency of the FOXA2 associated with a complex clinical phenotype.Molecular genetics & genomic medicine · 2020Article
- Chromosome 20p PartialCase reports in genetics · 2020Article
- Alagille syndrome mutation update: Comprehensive overview of JAG1 and NOTCH2 mutation frequencies and insight into missense variant classification.Human mutation · 2019Article
- A global analysis of CNVs in diverse yak populations using whole-genome resequencing.BMC genomics · 2019Article
- Congenital Hyperinsulinism and Hypopituitarism Attributable to a Mutation in FOXA2.The Journal of clinical endocrinology and metabolism · 2018Article
- [Clinical and genetic study of an infant with Alagille syndrome: identification of a novel chromosomal interstitial deletion including JAG1 gene].Zhongguo dang dai er ke za zhi = Chinese journal of contemporary pediatrics · 2017Article
- A Newborn with Panhypopituitarism and Seizures.Case reports in genetics · 2017Article
- Alagille syndrome: clinical perspectives.The application of clinical genetics · 2016Review
- Heterozygous deletion of FOXA2 segregates with disease in a family with heterotaxy, panhypopituitarism, and biliary atresia.Human mutation · 2015Article
- Spectrum of JAG1 gene mutations in Polish patients with Alagille syndrome.Journal of applied genetics · 2014Article
- Homozygosity for the V37I GJB2 mutation in fifteen probands with mild to moderate sensorineural hearing impairment: further confirmation of pathogenicity and haplotype analysis in Asian populations.American journal of medical genetics. Part A · 2013Article
- Cryptic genomic rearrangements in three patients with 46,XY disorders of sex development.PloS one · 2013Article
Corrections and comments
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Authors and funding
15 authors at 3 institutions in 2 countries.
Funding
Abstract
The use of array technology to define chromosome deletions and duplications is bringing us closer to establishing a genotype/phenotype map of genomic copy number alterations. We studied 21 patients and five relatives with deletions of the short arm of chromosome 20 using the Illumina HumanHap550 SNP array to: 1) more accurately determine the deletion sizes; 2) identify and compare breakpoints; 3) establish genotype/phenotype correlations; and 4) investigate the use of the HumanHap550 platform for analysis of chromosome deletions. Deletions ranged from 95 kb to 14.62 Mb, and all of the breakpoints were unique. Eleven patients had deletions between 95 kb and 4 Mb and these individuals had normal development, with no anomalies outside of those associated with Alagille syndrome (AGS). The proximal and distal boundaries of these 11 deletions constitute a 5.4-Mb region, and we propose that haploinsufficiency for only 1 of the 12 genes in this region causes phenotypic abnormalities. This defines the JAG1-associated critical region, in which deletions do not confer findings other than those associated with AGS. The other 10 patients had deletions between 3.28 Mb and 14.62 Mb, which extended outside the critical region, and, notably, all of these patients had developmental delay. This group had other findings such as autism, scoliosis, and bifid uvula. We identified 47 additional polymorphic genome-wide copy number variants (>20 SNPs), with 0 to 5 variants called per patient. Deletions of the short arm of chromosome 20 are associated with relatively mild and limited clinical anomalies. The use of SNP arrays provides accurate high-resolution definition of genomic abnormalities.
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