De NovoPericentric Inversion of Chromosome 9 in Congenital Anomaly

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.

Prevalence of Pericentric Inversion of Chromosome 9 in Malatya Province and Environs and Its Relation with reproductive efficiency

“…In another study conducted in the Asian population, inv (9) incidence in prenatal group was predicted as 1.2% in Singapore and 1.95% in normal and patient population in Japan as. [7] In a study conducted by Mierla and Stoian with infertile patients, inv (9)-containing karyotype was found in 2.27% of individuals in the patient group and 3.76% in the control group. Although inv (9) was accepted as a minor chromosomal inversion that is not associated with an abnormal phenotype, several studies in the literature have reported contradictory views on its correlation with sterility and subfertility.…”

“…On the other hand, patients with inv (9)(p11q13) had various dysmorphic characteristics and/or congenital anomalies. [7] Of the 62 cases with inv (9), 43.5% were couples with habitual abortus, 6.45% were individuals with congenital anomaly, 3.22% were patients with growth deficiency and mental retardation, and 4.83% were patients with gender anomalies. [9] In a study conducted by Dana et al [13] in the Romanian population with 900 infertile couples, inv (9) rate was found to be 3.76%, whereas the same rate was found to be 2.27% in healthy controls.…”

The Expression of Preaxial Polydactyly Is Influenced by Modifying Genetic Elements and Is Not Maintained by Chromosomal Inversion in an Avian Biomedical Model

“…A chromosomal inversion event was proposed as the genetic mechanism for these observations. Support for this hypothesis was that inversion events were associated in several cases of human Po [Lodder et al, 2009;Jeong et al, 2010]. Similarly, using the mouse, Krebs et al [2003] and Niedermaier et al [2005] induced chromosomal inversions by radiation, which were approximately 1 Mb and 13 kb away from the Shh gene, respectively.…”

An Infertile Case with Homozygous Pericentric Inversion 9

“…Kromozom 1, 9, 16 ve Y'nin heterokromatin bölgelerindeki polimorfizmler sık görülen varyasyonlar olarak bildirilmiştir (1,2). Kromozom 9'un heterokromatin bölgesindeki perisentrik inversiyonu [inv(9)(p11q13)] normal popülasyonda %1-3 oranında bulunan polimorfik bir değişimdir (2). Bu kromozomal değişimin genellikle ailesel geçişli olduğu de novo olguların ise daha nadir görüldüğü bildirilmektedir (3).…”

“…Bu kromozomal değişimin genellikle ailesel geçişli olduğu de novo olguların ise daha nadir görüldüğü bildirilmektedir (3). Genellikle fenotipe yansımayan bu kromozomal değişimin normal bir varyant ya da anormal bir karyotip olup olmadığı kesinlik kazanmamıştır (2,3). Yapılan çalışmalarda infertilite, düşükler, konjenital anomaliler, mental retardasyon, inmemiş testis, gelişme geriliği gibi çeşitli hastalıklarla ilişkisi olabileceği rapor edilmiştir (1-3).…”