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
Diabetes in pregnant women could be source of morbidity and mortality if management was not optimal. One of the main complications of diabetes in pregnant women is birth defects. They have an estimated prevalence of 1...Diabetes in pregnant women could be source of morbidity and mortality if management was not optimal. One of the main complications of diabetes in pregnant women is birth defects. They have an estimated prevalence of 1.5%. They can be isolated or associated to other malformations. Prevention includes systematic screening when monitoring pregnancies, in particular carrying out morphological obstetrical ultrasounds. A case of limb malformation secondary to unbalanced maternal diabetes and absence of prenatal diagnosis despite the high number of ultrasounds that have been performed is reported here. This situation requests more attention to the quality of antenatal ultrasounds caregiving in developing countries.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.
文摘Diabetes in pregnant women could be source of morbidity and mortality if management was not optimal. One of the main complications of diabetes in pregnant women is birth defects. They have an estimated prevalence of 1.5%. They can be isolated or associated to other malformations. Prevention includes systematic screening when monitoring pregnancies, in particular carrying out morphological obstetrical ultrasounds. A case of limb malformation secondary to unbalanced maternal diabetes and absence of prenatal diagnosis despite the high number of ultrasounds that have been performed is reported here. This situation requests more attention to the quality of antenatal ultrasounds caregiving in developing countries.
