Trisomy 22 Mosaicism from Prenatal to Postnatal Findings: A Case Series and Systematic Review of the Literature.
Valentina TrevisanAnna MeroniChiara LeoniFabio SirchiaDavide PolitanoGiacomo FiandrinoValentina GiorgioDonato RiganteDomenico LimongelliLucrezia PerriElisabetta SforzaFrancesca LeonardiGermana ViscogliosiIlaria ContaldoDaniela OrteschiLuca ProiettiGiuseppe ZampinoRoberta OnesimoPublished in: Genes (2024)
The scattered information regarding the condition and the dearth of data on its natural history and developmental outcomes restrict genetic counseling, particularly in prenatal settings. Moreover, a prompt diagnosis is frequently delayed by the negative selection of trisomic cells in blood, with mosaicism percentage varying among tissues, which often entails the need for further testing. Purpose/topic: The aim of our work is to provide assistance in prenatal and postnatal genetic counseling by systematically delineating the current knowledge of the condition. This entails defining the prenatal and postnatal characteristics of the condition and presenting novel data from three cases, both prenatally and postnatally. Additionally, we report the developmental outcomes observed in two new patients.
Keyphrases
- pregnant women
- preterm infants
- end stage renal disease
- electronic health record
- ejection fraction
- healthcare
- genome wide
- newly diagnosed
- induced apoptosis
- chronic kidney disease
- big data
- gene expression
- copy number
- cell cycle arrest
- hiv testing
- dna methylation
- case report
- cell proliferation
- hepatitis c virus
- cell death
- data analysis
- men who have sex with men
- glycemic control
- hiv infected
- deep learning
- health information
- patient reported