Chromosomal Analysis of Patients

Reverse Heat Giemsa (RHG) banded karyotype was performed on metaphase chromosome preparations obtained from peripheral blood lymphocytes of both patients and parents according to standard protocol (450–550 band level). A minimum of 20 R-banded metaphase chromosomes were analyzed using Cytovision® Karyotyping software version 4.0. Karyotypes were classified according to the International System of Human Cytogenetic Nomenclature (ISCN 2020) [11 ]. Fluorescent in situ Hybridization (FISH) was carried out on metaphase chromosomes of the patients according to the standard protocol, using commercial probes. Array Comparative genomic hybridization (aCGH) 4 × 44 K micro-arrays was performed using the Agilent platform according to the manufacturer’s instructions (Feature Extraction 9.1, CGH Analytics 4.5, Santa Clara, California, United States). An abnormal ratio greater than + 0.58 or lower than − 0.75 was considered as an alteration. An in silico analysis of the unbalanced regions was executed using UCSC Genome Browser (https://genome.ucsc.edu/), the Database of Chromosome Imbalance and Phenotype in Humans using Ensemble Resources (DECIPHER: https://decipher.sanger.ac.uk/), the Database of Genomic Variants (DGV: http://dgv.tcag.ca/dgv/app/home) and the Online Mendelian Inheritance in Man database (OMIM: https://omim.org/).

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Rjiba K., Mougou-Zerelli S., Hamida I.H., Saad G., Khadija B., Jelloul A., Slimani W., Hasni Y., Dimassi S., khelifa H.B., Sallem A., Kammoun M., Abdallah H.H., Gribaa M., Bignon-Topalovic J., Chelly S., Khairi H., Bibi M., Kacem M., Saad A., Bashamboo A, & McElreavey K. (2023). Additional evidence for the role of chromosomal imbalances and SOX8, ZNRF3 and HHAT gene variants in early human testis development. Reproductive Biology and Endocrinology : RB&E, 21, 2.

Publication 2023

Agilent platform

Array comparative genomic hybridization Blood Chromosome Chromosomes 20 Fluorescent in situ hybridization Genomic Giemsa Human Humans Karyotypes Lymphocytes Metaphase Out patients Parents Patients Phenotype

Corresponding Organization :

Other organizations : Hôpital Farhat Hached, Centre National de la Recherche Scientifique, Institut Pasteur, University of Sousse

Top 5 similar protocols

Variable analysis

independent variables

Reverse Heat Giemsa (RHG) banded karyotype
Fluorescent in situ Hybridization (FISH)
Array Comparative genomic hybridization (aCGH) 4 × 44 K micro-arrays

dependent variables

Metaphase chromosome preparations obtained from peripheral blood lymphocytes of both patients and parents
R-banded metaphase chromosomes analyzed using Cytovision® Karyotyping software version 4.0
Karyotypes classified according to the International System of Human Cytogenetic Nomenclature (ISCN 2020)
Abnormal ratio greater than + 0.58 or lower than − 0.75 considered as an alteration

control variables

Standard protocol (450–550 band level) for metaphase chromosome preparations
Commercial probes used for FISH
Agilent platform used for aCGH 4 × 44 K micro-arrays according to manufacturer's instructions (Feature Extraction 9.1, CGH Analytics 4.5)

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