trisomy 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
  • atrioventricular septal defect (AVSD)
  • ventricular septal defect (VSD)
• fetal pleural effusion
• fetal ascites
• agenesis of the diaphragm
• ambiguous genitalia
• single umbilical artery
• fetal bradycardia
• congenital renal anomalies
  • multicystic dysplastic kidneys
  • renal agenesis 

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:

• dreigliedriger Daumen
• shortened fetal femoral length
• Schmid-Fraccaro-Syndrom