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De Novo Pericentric Inversion of Chromosome 9 in Congenital Anomaly

PURPOSE: The 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)(p11...

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Autores principales: Jeong, Seon-Yong, Kim, Bo-Young, Yu, Jae Eun
Formato: Texto
Lenguaje:English
Publicado: Yonsei University College of Medicine 2010
Materias:
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC2908878/
https://www.ncbi.nlm.nih.gov/pubmed/20635455
http://dx.doi.org/10.3349/ymj.2010.51.5.775
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author Jeong, Seon-Yong
Kim, Bo-Young
Yu, Jae Eun
author_facet Jeong, Seon-Yong
Kim, Bo-Young
Yu, Jae Eun
author_sort Jeong, Seon-Yong
collection PubMed
description PURPOSE: The 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 METHODS: We 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. RESULTS: Chromosomal 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). CONCLUSION: Since 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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spelling pubmed-29088782010-09-01 De Novo Pericentric Inversion of Chromosome 9 in Congenital Anomaly Jeong, Seon-Yong Kim, Bo-Young Yu, Jae Eun Yonsei Med J Original Article PURPOSE: The 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 METHODS: We 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. RESULTS: Chromosomal 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). CONCLUSION: Since 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. Yonsei University College of Medicine 2010-09-01 2010-07-15 /pmc/articles/PMC2908878/ /pubmed/20635455 http://dx.doi.org/10.3349/ymj.2010.51.5.775 Text en © Copyright: Yonsei University College of Medicine 2010 http://creativecommons.org/licenses/by-nc/3.0 This is an Open Access article distributed under the terms of the Creative Commons Attribution Non-Commercial License (http://creativecommons.org/licenses/by-nc/3.0) which permits unrestricted noncommercial use, distribution, and reproduction in any medium, provided the original work is properly cited.
spellingShingle Original Article
Jeong, Seon-Yong
Kim, Bo-Young
Yu, Jae Eun
De Novo Pericentric Inversion of Chromosome 9 in Congenital Anomaly
title De Novo Pericentric Inversion of Chromosome 9 in Congenital Anomaly
title_full De Novo Pericentric Inversion of Chromosome 9 in Congenital Anomaly
title_fullStr De Novo Pericentric Inversion of Chromosome 9 in Congenital Anomaly
title_full_unstemmed De Novo Pericentric Inversion of Chromosome 9 in Congenital Anomaly
title_short De Novo Pericentric Inversion of Chromosome 9 in Congenital Anomaly
title_sort de novo pericentric inversion of chromosome 9 in congenital anomaly
topic Original Article
url https://www.ncbi.nlm.nih.gov/pmc/articles/PMC2908878/
https://www.ncbi.nlm.nih.gov/pubmed/20635455
http://dx.doi.org/10.3349/ymj.2010.51.5.775
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