Trisomie 22

ähnliche Suchen

Trisomie 22
trisomy 22

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
fetaler Aszites
fetal bradycardia
multicystic dysplastic kidneys
Zwerchfellagenesie

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
• fetaler Aszites
• fetal bradycardia
• multicystic dysplastic kidneys
• Zwerchfellagenesie

und weiter:

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