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
- ejection fraction
- newly diagnosed
- chronic kidney disease
- induced apoptosis
- genome wide
- healthcare
- smoking cessation
- gene expression
- big data
- copy number
- cell cycle arrest
- dna methylation
- machine learning
- adipose tissue
- hepatitis c virus
- weight loss
- antiretroviral therapy