Abstract
The chromosomal polymorphism defined by variations of some chromosomal regions of a person (the constitutive heterochromatin and the short arms of the acrocentric chromosomes (13 to 15 and 21 - 22)) sometimes highlighted problems with regard to their safety and their pathogenicity. Polymorphisms are usually found in the same family and transmitted in the dominant Mendelian. Chromosome 9 inversion is a frequent phenomenon that some cytogeneticists consider as a variant of normal. Despite its classification as a minor chromosome rearrangement which does not correspond to abnormal phenotypes, many reports have raised conflicting opinions as well, and its complete safety is controversial. 27 cases of inversion of chromosome 9 were identified in our laboratory. The main indications for karyotype of the case of inv (9) were congenital cardiopathy (18.5%), sex development disorders of (18.5%), down syndrome (18.5%), and infertility (14.8%). This study stood out the observations of many authors who highlighted the involvement of inv (9) in the genesis of several pathologies.
Highlights
The chromosomal polymorphism defined by variations of some chromosomal regions of a person (the constitutive heterochromatin and the short arms of the acrocentric chromosomes (13 to 15 and 21 - 22)) sometimes highlighted problems with regard to their safety and their pathogenicity
Despite its classification as a minor chromosome rearrangement which does not correspond to abnormal phenotypes, many reports have raised conflicting opinions as well, and its complete safety is controversial. 27 cases of inversion of chromosome 9 were identified in our laboratory
It does not seem to be correlated with abnormal phenotypes, many controversial reports have been published indicating that it could lead to abnormal clinical conditions
Summary
Constitutional chromosomal abnormalities include numeral chromosomal aberrations that cause aneuploidy and structural chromosomal aberrations such as translocations, inversions, deletions, and duplications [1]. The pericentric inversion of chromosome 9 (inv (9)) is one of the most common structural balanced chromosomal variations and was found in both normal and affected populations [4] [5]. The incidence is approximately 1% to 3% in the general population [3] [4]. Most cytogeneticists consider it as a normal variant because of the occurrence of inv (9). In order to study the frequency and the phenotype associated with inv (9), we reported 27 cases, in the Laboratory of Histology-Biology of Reproduction, Cytogenetics and Medical Genetics of Cotonou, Benin
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