摘要
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.
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.
作者
Simon Azonbakin
Alfred Ouedraogo
Alexis Ouedraogo
Daniel Sewadouno
Arnaud Agbanlinsou
Yannick Goussanou
Marius Adjagba
Jules Alao
Anatole Laleye
Simon Azonbakin;Alfred Ouedraogo;Alexis Ouedraogo;Daniel Sewadouno;Arnaud Agbanlinsou;Yannick Goussanou;Marius Adjagba;Jules Alao;Anatole Laleye(Laboratory of Histology-Reproductive Biology, Cytogenetics and Medical Genetics, Human Biology Unit, Faculty of Health Sciences, Abomey-Calavi University, Cotonou, Benin;Laboratory of Histology-Embryology, Cytogenetics and Reproductive Biology, Teaching Hospital of Bogodogo, Ouagadougou, Burkina Faso;Department of Pediatric and Medical Genetic, Faculty of Health Sciences, Abomey-Calavi University, Cotonou, Benin)
