ArticleHuman genetics2009
Redefined genomic architecture in 15q24 directed by patient deletion/duplication breakpoint mapping.
Article in Human genetics, 2009. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 38 papers.
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Who cites it
38 citing papers in PubMed.
- Article
- Optical genome mapping identifies rare structural variants in neural tube defects.Genome research · 2025Article
- Structural polymorphism and diversity of human segmental duplications.Nature genetics · 2025Article
- Structural polymorphism and diversity of human segmental duplications.bioRxiv : the preprint server for biology · 2024Article
- Coexistence of urogenital malformations in a female fetus with de novo 15q24 microdeletion and a literature review.Molecular genetics & genomic medicine · 2020Review
- Genomic inversions and GOLGA core duplicons underlie disease instability at the 15q25 locus.PLoS genetics · 2019Article
- Prenatal diagnosis and molecular cytogenetic characterization of a de novo duplication of 15q24.3-q26.1.The application of clinical genetics · 2018Article
- Prenatal Identification and Molecular Characterization of Two Simultaneous De Novo Interstitial Duplications of Chromosomal Regions 7p22.1p21.1 and 15q24.1.Case reports in genetics · 2018Article
- Genomic Disorders and Neurocognitive Impairment in Pediatric CKD.Journal of the American Society of Nephrology : JASN · 2017Article
- Review
- A chromosomal microdeletion of 15q in a female patient with epilepsy, ID, and autism spectrum disorder: a case report.Clinical case reports · 2017Article
- Characterization of chromosomal abnormalities in pregnancy losses reveals critical genes and loci for human early development.Human mutation · 2017Article
- An inferential study of the phenotype for the chromosome 15q24 microdeletion syndrome: a bootstrap analysis.PeerJ · 2016Article
- Clinical characterization of int22h1/int22h2-mediated Xq28 duplication/deletion: new cases and literature review.BMC medical genetics · 2015Article
- Delineation of candidate genes responsible for structural brain abnormalities in patients with terminal deletions of chromosome 6q27.European journal of human genetics : EJHG · 2015Review
- Palindromic GOLGA8 core duplicons promote chromosome 15q13.3 microdeletion and evolutionary instability.Nature genetics · 2014Article
- Maturation of cortical circuits requires Semaphorin 7A.Proceedings of the National Academy of Sciences of the United States of America · 2014Article
- Genomic Analyses of Patients With Unexplained Early-Onset Scoliosis.Spine deformity · 2014Article
- Somatic mosaicism detected by exon-targeted, high-resolution aCGH in 10,362 consecutive cases.European journal of human genetics : EJHG · 2014Article
- The genetics of microdeletion and microduplication syndromes: an update.Annual review of genomics and human genetics · 2014Review
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Authors and funding
15 authors.
Funding
Abstract
We report four new patients with a submicroscopic deletion in 15q24 manifesting developmental delay, short stature, hypotonia, digital abnormalities, joint laxity, genital abnormalities, and characteristic facial features. These clinical features are shared with six recently reported patients with a 15q24 microdeletion, supporting the notion that this is a recognizable syndrome. We describe a case of an ~2.6 Mb microduplication involving a portion of the minimal deletion critical region in a 15-year-old male with short stature, mild mental retardation, attention deficit hyperactivity disorder, Asperger syndrome, decreased joint mobility, digital abnormalities, and characteristic facial features. Some of these features are shared with a recently reported case with a 15q24 microduplication involving the minimal deletion critical region. We also report two siblings and their mother with duplication adjacent and distal to this region exhibiting mild developmental delay, hypotonia, tapering fingers, characteristic facial features, and prominent ears. The deletion and duplication breakpoints were mapped by array comparative genomic hybridization and the genomic structure in 15q24 was analyzed further. Surprisingly, in addition to the previously recognized three low-copy repeat clusters (BP1, BP2, and BP3), we identified two other paralogous low-copy repeat clusters that likely mediated the formation of alternative sized 15q24 genomic rearrangements via non-allelic homologous recombination.
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