Showing papers on "Chromosome published in 2024"

Chromosome Disorders

Abstract: Early identification of an underlying genetic condition in a patient can aid in defining a treatment plan and help to identify resources for better care for these patients and their families. In this chapter, we introduce clinical assays that are commonly used in the diagnosis of chromosome disorders including karyotype, fluorescence in situ hybridization (FISH), and chromosomal microarray analysis (CMA). In addition, we describe non-invasive prenatal screening (NIPS), which is a frequently used screen for chromosome disorders during pregnancy, based on assaying cell-free fetal DNA found in maternal serum. Chromosome disorders which commonly present in the newborn period are discussed, including prevalence, clinical features, genetic mechanism, and implications for genetic counseling. These examples encompass genetic imbalances arising through a variety of mechanisms, including whole chromosome gains and losses (aneuploidy), as well as partial chromosome imbalances (segmental or partial aneuploidy), and recurrent microdeletions/microduplications which can result from recombination driven by repetitive sequences in the genome. Finally, emerging technologies in the detection of chromosome abnormalities, including whole genome sequencing, are introduced.