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Correlation between Reasons for Prescription and Karyotype Results in Patients Referred for Suspected Chromosomal Abnormalities

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Open Journal of Genetics 2023年第2期13卷 97-103页

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 Laboratory of Histology-Embryology-Cytogenetics Training and Research Unit-Medical Sciences Félix Houphou&eumlt-Boigny University Abidjan C&ocircte d’Ivoire Laboratory of Pathologycal Anatomy and Cytology Training and Research Unit-Medical Sciences Félix Houphou&eumlt-Boigny University Abidjan C&ocircte d’Ivoire Laboratory of Clinical Cytology and Reproductive Biology Training and Research Unit-Medical Sciences Alassane Ouattara University Bouaké C&ocircte d’Ivoire

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).

关键词： Diagnosis Reasons for Prescription Karyotype Chromosomal Abnormalities

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