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- Title
De Novo Pericentric Inversion of Chromosome 9 in Congenital Anomaly.
- Authors
Seon-Yong Jeong; Bo-Young Kim; Jae Eun Yu
- Abstract
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.
- Subjects
CHROMOSOME abnormalities; KARYOTYPES; NEWBORN infants; PEDIATRIC clinics; HUMAN abnormalities; CHORIONIC villus sampling; POLYDACTYLY; CLUBFOOT
- Publication
Yonsei Medical Journal, 2010, Vol 51, Issue 5, p775
- ISSN
0513-5796
- Publication type
Article
- DOI
10.3349/ymj.2010.51.5.775