TITLE:
Correlation between Reasons for Prescription and Karyotype Results in Patients Referred for Suspected Chromosomal Abnormalities
AUTHORS:
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
KEYWORDS:
Diagnosis, Reasons for Prescription, Karyotype, Chromosomal Abnormalities
JOURNAL NAME:
Open Journal of Genetics,
Vol.13 No.2,
June
27,
2023
ABSTRACT: 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).