NIFTY test by BGI detects trisomies 13, 18, and 21 as well as some sex chromosome aneuploidies and selected microdeletions [3]. Verinata Health, a subsidiary of Illumina offers the Verifi test for detection of trisomies 13, 18, 21, and the presence of monosomy X. The expanded version of this test also detects other aneuploidies and microdeletions [4]. Compared to other NIPT techniques such as t...

INTRODUCTION Microdeletions of chromosome 22 are common and have a prevalence of at least 1/4 000. Cardiac abnormalities, abnormal facial features and palatal abnormalities are frequently present in these patients. AIM To describe the cardiac lesions and selected measurable facial features in children from the Free State and Northern Cape presenting at the Cardiology Unit of the Universitas A...

Background: Aberrant chromosomes can cause azoospermia but little is known about its molecular mechanism. Our aim is to explore any possible genetic defective to explain a given male infertility. Materials and Methods: An azoopsermic male was identified in a 23 years old male. G-banding and FISH confirmed the karyotype as chromosome insertion (18:7) (q22.1; q36.2q21.11). NGS was performed to an...

Today, approximately 15% of couples have reduced fertility. In most cases the reason is male infertility, usually of genetic origin. Thus, in the context of research in genes involved in reproduction and sex determination, genetic defects in gametogenesis are being extensively studied. The most frequent pathogenic causes of male infertility are Y chromosomal microdeletions and obstructive azoos...