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Liu, S., Song, L., Cram, D.S., Xiong, L., Wang, K., Wu, R., Liu, J., Deng, K., Jia, B., Zhong, M. and Yang, F. (2015) Traditional Karyotyping vs Copy Number Variation Sequencing for Detection of Chromosomal Abnormalities Associated with Spontaneous Miscarriage. Ultrasound in Obstetrics and Gynecology, 46, 72-77.
https://doi.org/10.1002/uog.14849

has been cited by the following article:

• 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).