Incidental Detection of a Chromosomal Aberration by Array-CGH in an Early Prenatal Diagnosis for Monogenic Disease on Coelomic Fluid.

ABSTRACT:

Background

Turner syndrome is a rare genetic condition in which a female is partly or completely missing an X chromosome. Signs and symptoms vary among those affected. In fetuses that survive at birth and without congenital malformations, the prognosis is usually positive, but it has high lethality in utero, especially in the first trimester of pregnancy.

Methods

We report a case of monosomy X detected during a prenatal diagnosis for beta thalassemia on coelomic fluid (CF) at the VIII week of gestation. Beta globin gene analysis, whole genome amplification (WGA), quantitative fluorescent PCR and array comparative genomic hybridization (array-CGH) were performed on DNA extracted from CF.

Results

A monoallelic pattern of all Short Tandem Repeats mapped on the X chromoso

SUBMITTER: Vinciguerra M 

PROVIDER: S-EPMC9863495 | biostudies-literature | 2022 Dec

REPOSITORIES: biostudies-literature