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Virtual karyogram of fetal chromosomal microarray on CytoScan™ (Thermo Fisher Scientific Inc., Waltham, Massachusetts, US) 750K Chip shows no significant chromosomal deletion or duplication but there is a region of loss of heterozygosity (LOH) depicted by purple bands next to chromosome ideograms. LOH at the chromosome 1p arm includes the OSBPL9 gene (red arrow). The fetus was male, hence, the X chromosome LOH is shown. LOH: loss of heterozygosity

Journal: Cureus

Article Title: The First Known Case Report of a Novel Homozygous Nonsense Variant in the OSBPL9 Gene Associated With Fetal Cerebral Ventriculomegaly, Cerebellar Hypoplasia, and Arthrogryposis Multiplex

doi: 10.7759/cureus.80010

Figure Lengend Snippet: Virtual karyogram of fetal chromosomal microarray on CytoScan™ (Thermo Fisher Scientific Inc., Waltham, Massachusetts, US) 750K Chip shows no significant chromosomal deletion or duplication but there is a region of loss of heterozygosity (LOH) depicted by purple bands next to chromosome ideograms. LOH at the chromosome 1p arm includes the OSBPL9 gene (red arrow). The fetus was male, hence, the X chromosome LOH is shown. LOH: loss of heterozygosity

Article Snippet: Chromosomal microarray performed on Applied Biosystems™ CytoScan™ Optima 750K chip (Thermo Fisher Scientific Inc., Waltham, Massachusetts, US) did not reveal any significant aneuploidies or microdeletion-duplication syndromes.

Techniques: Microarray