摘要
Karyotype prescription is based on clinical signs (or reasons for karyotype prescription) which are phenotypic manifestations associated with chromosomal abnormalities. The aim of this study was to establish a correspondence between karyotype indications and their results in patients. This was a retrospective study that was carried out in the Histology-Embryology-Cytogenetics laboratory of the University Hospital of Cocody-Abidjan from 2014 to 2019. 58 patient files were identified and included the indication or reason for prescribing a constitutional karyotype and the biological result obtained. An individual data sheet was used to collect the data. 17 reasons for prescription were identified and divided into 2 groups. Sexual ambiguity was the most frequent reason (29.3%). The first group (G1) represented the 10 reasons for which the karyotype results were normal. The second group (G2) corresponded of the 7 motives with normal or abnormal karyotype results. Several anomalies were listed according to these reasons: inversions, mosaics (anomalies of number and structure) and trisomy 21. The last was the most frequent chromosomal anomaly (69.24%). It was found in several reasons for karyotype prescription: malformations, neurological disorders, suspected trisomy and cardiac pathology. Several factors could explain these results, among which are the limits of the karyotype and the non-genetic causes that can induce these abnormal phenotypes. Complementary examinations to the karyotype are molecular cytogenetic techniques, notably fluorescence in situ hybridization (FISH) and array comparative genomic hybridization (Array-CGH).
Karyotype prescription is based on clinical signs (or reasons for karyotype prescription) which are phenotypic manifestations associated with chromosomal abnormalities. The aim of this study was to establish a correspondence between karyotype indications and their results in patients. This was a retrospective study that was carried out in the Histology-Embryology-Cytogenetics laboratory of the University Hospital of Cocody-Abidjan from 2014 to 2019. 58 patient files were identified and included the indication or reason for prescribing a constitutional karyotype and the biological result obtained. An individual data sheet was used to collect the data. 17 reasons for prescription were identified and divided into 2 groups. Sexual ambiguity was the most frequent reason (29.3%). The first group (G1) represented the 10 reasons for which the karyotype results were normal. The second group (G2) corresponded of the 7 motives with normal or abnormal karyotype results. Several anomalies were listed according to these reasons: inversions, mosaics (anomalies of number and structure) and trisomy 21. The last was the most frequent chromosomal anomaly (69.24%). It was found in several reasons for karyotype prescription: malformations, neurological disorders, suspected trisomy and cardiac pathology. Several factors could explain these results, among which are the limits of the karyotype and the non-genetic causes that can induce these abnormal phenotypes. Complementary examinations to the karyotype are molecular cytogenetic techniques, notably fluorescence in situ hybridization (FISH) and array comparative genomic hybridization (Array-CGH).
作者
Zhou Patricia Deh
Malika Joane Astrid Dieth
Quidana Désirée Coulibaly
Mimbra Olivia Annick Bouatinin
Bi You Etienne Bazago Goulai
Abou Joël Landry Okon
Brahima Doukouré
Mohenou Isidore Jean-Marie Diomandé
Gnangoran Victor Yao
Zhou Patricia Deh;Malika Joane Astrid Dieth;Quidana Désirée Coulibaly;Mimbra Olivia Annick Bouatinin;Bi You Etienne Bazago Goulai;Abou Joël Landry Okon;Brahima Doukouré;Mohenou Isidore Jean-Marie Diomandé;Gnangoran Victor Yao(Laboratory of Histology-Embryology-Cytogenetics, Training and Research Unit-Medical Sciences, Félix Houphouë,t-Boigny University, Abidjan, Cô,te d’Ivoire;Laboratory of Pathologycal Anatomy and Cytology, Training and Research Unit-Medical Sciences, Félix Houphouë,t-Boigny University, Abidjan, Cô,te d’Ivoire;Laboratory of Clinical Cytology and Reproductive Biology, Training and Research Unit-Medical Sciences, Alassane Ouattara University, Bouaké, Cô,te d’Ivoire)
