De novo pericentric inversion of chromosome 9 in congenital anomaly.

Yonsei Medical Journal
Seon-Yong JeongJae Eun Yu

Abstract

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). 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. 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). Since our results indicate that the incidence of inv(9)(p11q13) in patients with congenital anomalies was not significantly different from the normal population...Continue Reading

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Citations

Jan 1, 2011·BMJ Case Reports·Andreia BarrosCristina Alves
Nov 3, 2015·Taiwanese Journal of Obstetrics & Gynecology·Boxian HuangJiayin Liu
Dec 11, 2014·The Journal of Obstetrics and Gynaecology Research·Sebahat Atar Gürel
Jul 8, 2015·Journal of Pediatric and Adolescent Gynecology·Katharina RallSara Brucker
Sep 29, 2011·Korean journal of pediatrics·Eun Young KimJong Beom Sin
Feb 16, 2018·Child's Nervous System : ChNS : Official Journal of the International Society for Pediatric Neurosurgery·Nazlı Gülsüm AkyelMesut Sivri
Jul 1, 2011·European Journal of Endocrinology·George NoussiosKonstantinos Natsis
Mar 18, 2017·Journal of Pediatric Endocrinology & Metabolism : JPEM·Xuefeng ChenYoujun Jiang
Sep 23, 2020·The Journal of International Medical Research·Xiaolei XieJiang Tang
Sep 28, 2018·Journal of Assisted Reproduction and Genetics·Ozlem OkutmanStéphane Viville
Oct 28, 2020·International Journal of Molecular Sciences·Ayaka EdoMasayo Takahashi

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Methods Mentioned

BETA
chromosomal aberrations
X-ray

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