ArticleAmerican journal of medical genetics. Part A2009
Genotype-phenotype correlation in four 15q24 deleted patients identified by array-CGH.
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 18 papers.
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Who cites it
18 citing papers in PubMed, 40 citations in OpenAlex.
- De novo variants in NPTN cause a neurodevelopmental disorder with autism and neuroplastin-PMCA hypofunction.Genome medicine · 2026Article
- Molecular and phenotypic characteristics of 15q24 microdeletion in pediatric patients with developmental disorders.Molecular cytogenetics · 2021Article
- Coexistence of urogenital malformations in a female fetus with de novo 15q24 microdeletion and a literature review.Molecular genetics & genomic medicine · 2020Review
- Haploinsufficiency of MeCP2-interacting transcriptional co-repressor SIN3A causes mild intellectual disability by affecting the development of cortical integrity.Nature genetics · 2016Article
- An inferential study of the phenotype for the chromosome 15q24 microdeletion syndrome: a bootstrap analysis.PeerJ · 2016Article
- 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
- The genetics of microdeletion and microduplication syndromes: an update.Annual review of genomics and human genetics · 2014Review
- Phenotypic overlap in the contribution of individual genes to CNV pathogenicity revealed by cross-species computational analysis of single-gene mutations in humans, mice and zebrafish.Disease models & mechanisms · 2013Article
- Phenotypic heterogeneity of genomic disorders and rare copy-number variants.The New England journal of medicine · 2012Article
- Genomics, intellectual disability, and autism.The New England journal of medicine · 2012Review
- Further clinical and molecular delineation of the 15q24 microdeletion syndrome.Journal of medical genetics · 2012Article
- Chromosome 15q24 microdeletion syndrome.Orphanet journal of rare diseases · 2012Review
- Article
- Mammalian sex determination—insights from humans and mice.Chromosome research : an international journal on the molecular, supramolecular and evolutionary aspects of chromosome biology · 2012Review
- Microduplications in an autism multiplex family narrow the region of susceptibility for developmental disorders on 15q24 and implicate 7p21.American journal of medical genetics. Part B, Neuropsychiatric genetics : the official publication of the International Society of Psychiatric Genetics · 2011Article
- Phenotypic variability and genetic susceptibility to genomic disorders.Human molecular genetics · 2010Review
- New technologies for the identification of novel genetic markers of disorders of sex development (DSD).Sexual development : genetics, molecular biology, evolution, endocrinology, embryology, and pathology of sex determination and differentiation · 2010Review
Corrections and comments
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Authors and funding
15 authors at 11 institutions in 1 country.
Funding
No grant is acknowledged in the PubMed record.
Abstract
Microdeletion 15q24 is an emerging syndrome recently described, mainly due to increased use of array-CGH. Clinical features associate mild to moderate developmental delay, typical facial characteristics (high forehead and frontal hairline, broad eyebrows, downslanting palpebral features, long philtrum), hands (particularly proximal implanted thumbs) and genital anomalies (micropenis, hypospadias). We report here on four de novo cases having 2.5-6.1 Mb deletions involving 15q24: one 15q23q24.2 (Patient 1) and three 15q24.1q24.2 deletions (Patients 2-4). We correlate phenotype to genotype according to molecular boundaries of these deletions. Since bilateral iris coloboma and severe ano-rectal malformation were only present in Patient 1, we could link these anomalies to haploinsufficiency of 15q23 genes. Neither hypospadias nor micropenis were present in Patient 3 bearing the smallest deletion, therefore we could define 500 kb 15q24.1 region linked to these anomalies.
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Read under generation 80e0d062 · epoch 390. Bibliography from PubMed, PubMed Central and OpenAlex; grants from NIH RePORTER; trial links from ClinicalTrials.gov; estimates, votes and beliefs from the OpenQuestion graph.