ArticleAmerican journal of human genetics1999
Chromosome breakage hotspots and delineation of the critical region for the 9p-deletion syndrome.
Article in American journal of human genetics, 1999. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 27 papers, 1 of them a synthesis that pooled it.
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Who cites it
27 citing papers in PubMed, 1 synthesis or guideline pooled it.
- 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
- Phenotypic and genotypic insights into concurrent tertiary trisomy for 9p and 18p.Molecular cytogenetics · 2025Article
- Review
- Article
- Chromosome 9p terminal deletion in nine Egyptian patients and narrowing of the critical region for trigonocephaly.Molecular genetics & genomic medicine · 2021Article
- A rare familial rearrangement of chromosomes 9 and 15 associated with intellectual disability: a clinical and molecular study.Molecular cytogenetics · 2021Article
- Chromatin Remodeling BAF (SWI/SNF) Complexes in Neural Development and Disorders.Frontiers in molecular neuroscience · 2017Review
- A case of 9p deletion syndrome with congenital infantile glaucoma, effective method of diagnosis, and treatment.International journal of ophthalmology · 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
- Anaesthetic concerns in an infant with a rare genetic condition; chromosome 9p22 deletion syndrome.Indian journal of anaesthesia · 2015Article
- Duplication 9p and their implication to phenotype.BMC medical genetics · 2014Article
- A Wt1-Dmrt1 transgene restores DMRT1 to sertoli cells of Dmrt1(-/-) testes: a novel model of DMRT1-deficient germ cells.Biology of reproduction · 2013Article
- 7q36 deletion and 9p22 duplication: effects of a double imbalance.Molecular cytogenetics · 2013Article
- Child with deletion 9p syndrome presenting with craniofacial dysmorphism, developmental delay, and multiple congenital malformations.Case reports in genetics · 2013Article
- Genetic basis of single-suture synostoses: genes, chromosomes and clinical implications.Child's nervous system : ChNS : official journal of the International Society for Pediatric Neurosurgery · 2012Review
- Characterization of a complex rearrangement involving duplication and deletion of 9p in an infant with craniofacial dysmorphism and cardiac anomalies.Molecular cytogenetics · 2012Article
- Heterozygous missense mutations in SMARCA2 cause Nicolaides-Baraitser syndrome.Nature genetics · 2012Article
- Molecular mechanisms generating and stabilizing terminal 22q13 deletions in 44 subjects with Phelan/McDermid syndrome.PLoS genetics · 2011Article
Corrections and comments
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Authors and funding
5 authors.
Funding
Abstract
The clinical features of the 9p-deletion syndrome include dysmorphic facial features (trigonocephaly, midface hypoplasia, upward-slanting palpebral fissures, and a long philtrum) and mental retardation. The majority of these patients appear to have similar cytogenetic breakpoints in 9p22, but some cases show phenotypic heterogeneity. To define the breakpoints of the deleted chromosomes, we studied 24 patients with a deletion of 9p, by high-resolution cytogenetics, FISH with 19 YACs, and PCR using 25 different sequence-tagged sites. Of 10 different breakpoints identified, 9 were localized within an approximately 5-Mb region, in 9p22-p23, that encompasses the interval between D9S1869 (telomeric) and D9S162 (centromeric). Eight unrelated patients had a breakpoint (group 1) in the same interval, between D9S274 (948h1) and D9S285 (767f2), suggesting a chromosome-breakage hotspot. Among 12 patients, seven different breakpoints (groups 3-9) were localized to a 2-Mb genomic region between D9S1709 and D9S162, which identified a breakpoint-cluster region. The critical region for the 9p-deletion syndrome maps to a 4-6-Mb region in 9p22-p23. The results from this study have provided insight into both the heterogeneous nature of the breakage in this deletion syndrome and the resultant phenotype-karyotype correlations.
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