Trisomie 22
Trisomy 22 is an aneuploidic chromosomal anomaly which is usually fatal unless in mosaic forms.
Pathology
Variants
Duplication of the short arm (p) and a small section of the long arm (q) of chromosome 22 can give result to the cat-eye syndrome - Schmidt-Fraccaro syndrome.
Radiographic features
Antenatal ultrasound
Multiple sonographic abnormalities are often present. Oligohydramnios is a common sonographic finding and can be present in ~ 55% of affected fetuses 1. Intrauterine growth restriction and increased nuchal thickness were slightly less frequent and may be detected in the 1 trimester.
Other sonographically detectable features include
- cerebellar defects
- femoral hypoplasia - shortened femur
- mild fetal anasarca
- mild generalized skin edema
- edema of the scalp, face, and neck
- congenital cardiac anomalies
- fetal pleural effusion
- fetal ascites
- agenesis of the diaphragm
- ambiguous genitalia
- single umbilical artery
- fetal bradycardia
- congenital renal anomalies
Siehe auch:
- angeborene renale Anomalien
- Oligohydramnion
- einseitige Nierenagenesie
- chromosomale Anomalien
- fetal pleural effusion
- Intrauterine Wachstumsretardierung
- nuchal thickness
- atrioventricular septal defect (AVSD)
- singuläre Nabelschnurarterie (sNSA)
- Ventrikelseptumdefekt
- shortened femur
- fetal anasarca
- fetal bradycardia
- multicystic dysplastic kidneys
- fetaler Aszites
- Zwerchfellagenesie
und weiter:
Assoziationen und Differentialdiagnosen zu Trisomie 22:
atrioventricular
septal defect (AVSD)
singuläre
Nabelschnurarterie (sNSA)