Molecular cytogenetic diagnosis of paracentric inversion at 8p23.1 in the karyotype of the mother of a patient with invdupdel(8p) within ring chromosome 8

Abstract

The combination of an inverted duplication with a terminal 8p deletion (invdupdel(8p)) is a rare chromosomal rearrangement that manifests with neurodevelopmental delay, intellectual disability, heart defects, and brain abnormalities. It is known that a polymorphic paracentric inversion in the structure of mother’s chromosome 8 can lead to invdupdel(8p) in her child. We have created a system of DNA-probes to search with the FISH-method for cryptic inversion in chromosome 8 of the mother of a patient with developmental delay, muscle hypotonia, craniofacial anomalies and ring chromosome 8 caused by invdupdel(8p). An inversion in the structure of chromosome 8 in a woman was revealed, which indicates the need for prenatal diagnosis in the case of pregnancy.