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Limb Malformation Secondary to Maternal Diabetes: A Case at Mother and Children Tertiary Hospital in Cotonou-Benin Republic

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Open Journal of Pathology 2022年第1期12卷 31-36页

作者： Simon Azonbakin daniel sewadouno Maroufou Jules Alao Anatole Lalèyè Service d’Histologie Biologie de la reproduction Cytogénétique et Génétique Médicale Faculté des Sciences de la Santé Université d’Abomey-Calavi Abomey-Calavi Benin Service de Pédiatrie CHU de la Mère et de l’Enfant-Lagune de Cotonou Cotonou Benin

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.

关键词： Congenital Limb Malformation Diabetes

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Chromosome Polymorphism and Human Pathology: About 27 Cases of Chromosome 9 Inversion in the Beninese Population

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Open Journal of Genetics 2021年第3期11卷 23-31页

作者： 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

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.

关键词： Inversion Chromosome 9 Karyotype Abnormality Fertility

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