ArticleEuropean journal of pediatrics2008
A further case of the recurrent 15q24 microdeletion syndrome, detected by array CGH.
Article in European journal of pediatrics, 2008. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 22 papers.
What it found
Each row is one number read from the abstract, on the scale the paper reported it, with its interval. Left of the dashed line favours the treatment, right favours the comparator. Under each row is the sentence it came from. New to these charts? A ten-minute tutorial.
The abstract states no effect estimate the extractor could read, or names no intervention and outcome on the map, so this paper lights no cell and moves no belief. It is still indexed, cited and linked below.
The trial behind it
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.
Neither the registry nor the abstract names a trial number. If this is a trial report, that itself is worth knowing.
Who cites it
22 citing papers in PubMed, 59 citations in OpenAlex.
- Molecular and phenotypic characteristics of 15q24 microdeletion in pediatric patients with developmental disorders.Molecular cytogenetics · 2021Article
- Neuroplastin in human cognition: review of literature and future perspectives.Translational psychiatry · 2021Review
- Coexistence of urogenital malformations in a female fetus with de novo 15q24 microdeletion and a literature review.Molecular genetics & genomic medicine · 2020Review
- Identification of an IdenticalFrontiers in pharmacology · 2020Article
- An inferential study of the phenotype for the chromosome 15q24 microdeletion syndrome: a bootstrap analysis.PeerJ · 2016Article
- Association of Long Runs of Homozygosity With Alzheimer Disease Among African American Individuals.JAMA neurology · 2015Article
- De novo interstitial deletion of 15q22q23 with global developmental delay and hypotonia: the first Korean case.Korean journal of pediatrics · 2015Article
- 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
- Genomic Variation: Lessons Learned from Whole-Genome CNV Analysis.Current genetic medicine reports · 2014Review
- 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
- 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
- Identification of TCTE3 as a gene responsible for congenital diaphragmatic hernia using a high-resolution single-nucleotide polymorphism array.Pediatric surgery international · 2011Article
- A large-scale survey of the novel 15q24 microdeletion syndrome in autism spectrum disorders identifies an atypical deletion that narrows the critical region.Molecular autism · 2010Article
- Disorders caused by chromosome abnormalities.The application of clinical genetics · 2010Article
- Genotype-phenotype correlation in four 15q24 deleted patients identified by array-CGH.American journal of medical genetics. Part A · 2009Article
- Redefined genomic architecture in 15q24 directed by patient deletion/duplication breakpoint mapping.Human genetics · 2009Article
Corrections and comments
PubMed lists nothing against this paper. Absence here is not a guarantee, only a check that was made.
Authors and funding
8 authors at 2 institutions in 1 country.
Funding
No grant is acknowledged in the PubMed record.
Abstract
We report on a 10-year-old patient with developmental delay, craniofacial dysmorphism, digital and genital abnormalities. In addition, muscular hypotonia, strabism, and splenomegaly were observed; inguinal and umbilical hernias were surgically corrected. Mucopolysaccharidoses and CDG syndromes could not be found. Chromosome analysis revealed a normal male karyotype (46,XY). A more detailed investigation of the patient's genomic DNA by microarray-based comparative genomic hybridization (array CGH) detected an interstitial 3.7 Mb deletion ranging from 15q24.1 to 15q24.3 which was shown to be de novo. Interstitial deletions involving 15q24 are rare. Sharp et al. (Hum Mol Genet 16:567-572, 2007) recently characterized a recurrent 15q24 microdeletion syndrome with breakpoints in regions of segmental duplications. The de novo microdeletion described here colocalizes with the minimal deletion region of the 15q24 microdeletion syndrome. The distinct clinical phenotype associated with this novel microdeletion syndrome is similar to the phenotype of our patient with respect to specific facial features, developmental delay, microcephaly, digital abnormalities, and genital abnormalities in males. We present a genotype-phenotype correlation and comparison with patients from the literature.
Indexed as
Identifiers
What OpenQuestion holds
Registered trials
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.