ArticleYonsei medical journal2010
De novo pericentric inversion of chromosome 9 in congenital anomaly.
Article in Yonsei medical journal, 2010. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 15 papers.
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Who cites it
15 citing papers in PubMed, 32 citations in OpenAlex.
- Combined optical genome mapping and cnv-seq identify complex Y-chromosome rearrangements and ectopy in 46,XX testicular disorder of sex development.Molecular cytogenetics · 2026Article
- Effect of pericentric inversion of chromosome 9 on reproductive outcomes in assisted reproductive technology: a propensity score-matched cohort study.Frontiers in endocrinology · 2026Article
- IUGR ambiguous genitalia in Iran: a case report.Journal of medical case reports · 2025Article
- Exploring the link between chromosomal polymorphisms and reproductive abnormalities.Reproductive health · 2024Article
- Occurrence of mosaic trisomy 22 and pericentric inversion of chromosome 9 in a patient with a good prognosis.BMC medical genomics · 2023Article
- Article
- The Progress of Research on Genetic Factors of Recurrent Pregnancy Loss.Genetics research · 2023Review
- Article
- Capacity of Retinal Ganglion Cells Derived from Human Induced Pluripotent Stem Cells to Suppress T-Cells.International journal of molecular sciences · 2020Article
- Analysis of the clinical features of pericentric inversion of chromosome 9.The Journal of international medical research · 2020Article
- Genetic evaluation of patients with non-syndromic male infertility.Journal of assisted reproduction and genetics · 2018Review
- Persistent craniopharyngeal canal, bilateral microphthalmia with colobomatous cysts, ectopic adenohypophysis with Rathke cleft cyst, and ectopic neurohypophysis: case report and review of the literature.Child's nervous system : ChNS : official journal of the International Society for Pediatric Neurosurgery · 2018Review
- Campomelic dysplasia and malignant hyperthermia.BMJ case reports · 2011Article
- A case of de novo duplication of 15q24-q26.3.Korean journal of pediatrics · 2011Article
- Metabolic Alkalosis resulting from a Congenital Duodenal Diaphragm.Journal of neonatal surgeryArticle
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Authors and funding
3 authors at 1 institution in 1 country.
Funding
No grant is acknowledged in the PubMed record.
Abstract
purposeThe pericentric inversion of chromosome 9 is one of the most common structural balanced chromosomal variations and has been found in both normal populations and patients with various abnormal phenotypes and diseases. The aim of this study was to re-evaluate the clinical impact of inv(9)(p11q13). MATERIALS AND
methodsWe studied the karyotypes of 431 neonates with congenital anomalies at the Pediatric Clinic in Ajou University Hospital between 2004 and 2008 and retrospectively reviewed their clinical data.
resultsChromosomal aberrations were detected in 60 patients (13.9%). The most common type of structural abnormality was inv(9)(p11q13), found in eight patients. Clinical investigation revealed that all eight cases with inv(9)(p11q13) had various congenital anomalies including: polydactyly, club foot, microtia, deafness, asymmetric face, giant Meckel's diverticulum, duodenal diaphragm, small bowel malrotation, pulmonary stenosis, cardiomyopathy, arrhythmia, and intrauterine growth restriction. The cytogenetic analysis of parents showed that all of the cases were de novo heterozygous inv(9)(p11q13).
conclusionSince our results indicate that the incidence of inv(9)(p11q13) in patients with congenital anomalies was not significantly different from the normal population, inv(9)(p11q13) does not appear to be pathogenic with regard to the congenital anomalies. Some other, to date unknown, causes of the anomalies remain to be identified.
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