ArticleGenetics in medicine : official journal of the American College of Medical Genetics2008
Detailed characterization of, and clinical correlations in, 10 patients with distal deletions of chromosome 9p.
Article in Genetics in medicine : official journal of the American College of Medical Genetics, 2008. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 30 papers, 1 of them a synthesis that pooled it.
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Who cites it
30 citing papers in PubMed, 1 synthesis or guideline pooled it, 67 citations in OpenAlex.
- Precise breakpoint detection in a patient with 9p- syndrome.Cold Spring Harbor molecular case studies · 2020Pooled it
- Prenatal diagnosis of 9p distal deletion associated with subependymal cysts: A case report and literature review.Medicine · 2026Review
- Whole-genome sequencing reveals individual and cohort level insights into chromosome 9p syndromes.Genome medicine · 2025Article
- CUX1 variant and 9p deletion: expanding the spectrum and resolving variable GDD/ID in a family.BMC medical genomics · 2025Article
- Using a new analytic approach for genotyping and phenotyping chromosome 9p deletion syndrome.European journal of human genetics : EJHG · 2024Article
- New candidate region for mirror hand movements: two patients with terminal 9p deletion and 20p duplication.Molecular biology reports · 2024Article
- Review
- Article
- Chromosome 9p terminal deletion in nine Egyptian patients and narrowing of the critical region for trigonocephaly.Molecular genetics & genomic medicine · 2021Article
- Exposure to sevoflurane results in changes of transcription factor occupancy in sperm and inheritance of autism†.Biology of reproduction · 2021Article
- The Clinical Dilemma of Autism Spectrum Disorder Diagnosis in a Child with 9p Deletion.Journal of pediatric genetics · 2021Article
- A new case of 17p13.3p13.1 microduplication resulted from unbalanced translocation: clinical and molecular cytogenetic characterization.Molecular cytogenetics · 2021Article
- A brother and sister with the same karyotype: Case report of two siblings with partial 3p duplication and partial 9p deletion and sex reversal.Clinical case reports · 2021Article
- Approach to the Virilizing Girl at Puberty.The Journal of clinical endocrinology and metabolism · 2021Review
- Deletion in theJournal of the American Society of Nephrology : JASN · 2020Article
- Chromosomal microarray analysis in the genetic evaluation of 279 patients with syndromic obesity.Molecular cytogenetics · 2018Article
- Loss ofMolecular cytogenetics · 2018Article
- Prevalence of Pathogenic Copy Number Variation in Adults With Pediatric-Onset Epilepsy and Intellectual Disability.JAMA neurology · 2017Article
- Clinical and neuroradiological features of the 9p deletion syndrome.Child's nervous system : ChNS : official journal of the International Society for Pediatric Neurosurgery · 2016Article
- Complex nature of apparently balanced chromosomal rearrangements in patients with autism spectrum disorder.Molecular autism · 2015Article
Corrections and comments
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Authors and funding
7 authors at 4 institutions in 1 country.
Funding
Abstract
purposeDeletions of distal 9p are associated with trigonocephaly, mental retardation, dysmorphic facial features, cardiac anomalies, and abnormal genitalia. Previous studies identified a proposed critical region for the consensus phenotype in band 9p23, between 11.8 Mb and 16 Mb from the 9p telomere. Here we report 10 new patients with 9p deletions; 9 patients have clinical features consistent with 9p- syndrome, but possess terminal deletions smaller than most reported cases, whereas one individual lacks the 9p- phenotype and shows a 140-kb interstitial telomeric deletion inherited from his mother.
methodsWe combined fluorescence in situ hybridization and microarray analyses to delineate the size of each deletion.
resultsThe deletion sizes vary from 800 kb to 12.4 Mb in our patients with clinically relevant phenotypes. Clinical evaluation and comparison showed little difference in physical features with regard to the deletion sizes. Severe speech and language impairment were observed in all patients with clinically relevant phenotypes.
conclusionThe smallest deleted region common to our patients who demonstrate a phenotype consistent with 9p- is <2 Mb of 9pter, which contains six known genes. These genes may contribute to some of the cardinal features of 9p deletion syndrome.
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