The aim of the project is to: 1. Investigate organ development and growth in fetuses with sex chromosome disorders; 2. Investigate growth, development, and morbidity in children with sex chromosome disorders during the first years of life; 3. Delineate how variations in sex chromosome number affect the epigenetic and genetic mechanisms regulating gene expression in the placenta and in multiple tissues of the child after birth over time during early childhood; 4. Investigate the gut microbiome in children with sex chromosome disorders during the first years of life; 5. Identify the epigenetic and genetic mechanisms and placental and child-specific alterations underlying the phenotype observed in fetuses, children, and adults with sex chromosome disorders, using a deep phenotyping approach.
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Level of DNA methylation
Timeframe: 5 years
Level of RNA ekspression
Timeframe: 5 years
Height
Timeframe: 5 years
Weight
Timeframe: 5 years
Body mass index
Timeframe: 5 years
Head circumference
Timeframe: 5 years
Fat mass and fat-free mass
Timeframe: 5 years
Development
Timeframe: 5 years
Fecal microbial diversity
Timeframe: 5 years
Fecal microbial composition
Timeframe: 5 year
Left ventricular ejection fraction
Timeframe: 5 years
Left ventricular diameters
Timeframe: 5 years
Interventricular septal wall thickness
Timeframe: 5 years
Heart rate
Timeframe: 5 years
PR interval
Timeframe: 5 years
QRS duration
Timeframe: 5 years
Corrected QT interval
Timeframe: 5 years
Blood pressure
Timeframe: 5 years
Congenital heart malformation
Timeframe: 5 years
Aorta diameter
Timeframe: 5 years
Aortic valve mean gradient
Timeframe: 5 years
Mitral valve mean gradient
Timeframe: 5 years
Transaortic doppler flow
Timeframe: 5 years
Fetal brain volume
Timeframe: 5 years
Fetal heart volume
Timeframe: 5 years
Fetal kidney volume
Timeframe: 5 years
Fetal lever volume
Timeframe: 5 years
Fetal spleen volume
Timeframe: 5 years
Fetal gonadal volume
Timeframe: 5 years