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 highligh...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.展开更多
文摘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.
