ArticleAmerican journal of human genetics2004
High-resolution molecular characterization of 15q11-q13 rearrangements by array comparative genomic hybridization (array CGH) with detection of gene dosage.
Article in American journal of human genetics, 2004. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 47 papers.
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Who cites it
47 citing papers in PubMed.
- Complex chromosomal rearrangement involving 15q11-q13 interstitial triplication and duplication: A new case report of dysmorphic and neuropsychiatric features.Clinical case reports · 2022Article
- 15q Duplication Syndrome: Report on the First Patient from Ecuador with an Unusual Clinical Presentation.Case reports in medicine · 2021Article
- Enhanced accumulation of N-terminally truncated Aβ with and without pyroglutamate-11 modification in parvalbumin-expressing GABAergic neurons in idiopathic and dup15q11.2-q13 autism.Acta neuropathologica communications · 2020Article
- IPSC Models of Chromosome 15Q Imprinting Disorders: From Disease Modeling to Therapeutic Strategies.Advances in neurobiology · 2020Article
- A rare autism-associated MINT2/APBA2 mutation disrupts neurexin trafficking and synaptic function.Scientific reports · 2019Article
- [A clinical and genetic analysis of a child with supernumerary marker chromosome 15-caused mental retardation, intractable epilepsy, and central precocious puberty].Zhongguo dang dai er ke za zhi = Chinese journal of contemporary pediatrics · 2018Article
- Molecular characterization of 20 small supernumerary marker chromosome cases using array comparative genomic hybridization and fluorescence in situ hybridization.Scientific reports · 2017Article
- Causes of death in Prader-Willi syndrome: Prader-Willi Syndrome Association (USA) 40-year mortality survey.Genetics in medicine : official journal of the American College of Medical Genetics · 2017Article
- Significant neuronal soma volume deficit in the limbic system in subjects with 15q11.2-q13 duplications.Acta neuropathologica communications · 2015Article
- Prader-Willi, Angelman, and 15q11-q13 Duplication Syndromes.Pediatric clinics of North America · 2015Review
- Copy number changes and methylation patterns in an isodicentric and a ring chromosome of 15q11-q13: report of two cases and review of literature.Molecular cytogenetics · 2015Article
- Partial tetrasomy of the proximal long arm of chromosome 15 in two patients: the significance of the gene dosage in terms of phenotype.Molecular cytogenetics · 2015Article
- Genetic diagnosis of autism spectrum disorders: the opportunity and challenge in the genomics era.Critical reviews in clinical laboratory sciences · 2014Review
- Chromosome 15q11-q13 copy number gain detected by array-CGH in two cases with a maternal methylation pattern.Molecular cytogenetics · 2014Article
- Resolving genomic disorder-associated breakpoints within segmental DNA duplications using massively parallel sequencing.Nature protocols · 2014Article
- Epigenetics, autism spectrum, and neurodevelopmental disorders.Neurotherapeutics : the journal of the American Society for Experimental NeuroTherapeutics · 2013Review
- The link between intraneuronal N-truncated amyloid-β peptide and oxidatively modified lipids in idiopathic autism and dup(15q11.2-q13)/autism.Acta neuropathologica communications · 2013Article
- A case of isodicentric chromosome 15 presented with epilepsy and developmental delay.Korean journal of pediatrics · 2012Article
- Differences between the pattern of developmental abnormalities in autism associated with duplications 15q11.2-q13 and idiopathic autism.Journal of neuropathology and experimental neurology · 2012Article
- Unique and atypical deletions in Prader-Willi syndrome reveal distinct phenotypes.European journal of human genetics : EJHG · 2012Article
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4 authors.
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Abstract
Maternally derived duplication of the imprinted region of chromosome 15q11-q14 leads to a complex neurobehavioral phenotype that often includes autism, cognitive deficits, and seizures. Multiple repeat elements within the region mediate a variety of rearrangements, including interstitial duplications, interstitial triplications, and supernumerary isodicentric marker chromosomes, as well as the deletions that cause Prader-Willi and Angelman syndromes. To elucidate the molecular structure of these duplication chromosomes, we designed a high-resolution array comparative genomic hybridization (array CGH) platform. The array contains 79 clones that form a gapped contig across the critical region on chromosome 15q11-q14 and 21 control clones from other autosomes and the sex chromosomes. We used this array to examine a set of 48 samples from patients with segmental aneuploidy of chromosome 15q. Using the array, we were able to determine accurately the dosage, which ranged from 1 to 6 copies, and also to detect atypical and asymmetric rearrangements. In addition, the increased resolution of the array allowed us to position two previously reported breakpoints within the contig. These results indicate that array CGH is a powerful technique to study rearrangements of proximal chromosome 15q.
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