TRISOMY 8

Trisomy 8 has been reported a number of times however the majority of cases are mosaic. Trisomy 8 and mosaicism have been described postnatally but has rarely diagnosed prenatally (1-3).

• Renal Anomalies (most frequent).
• Hydronephrosis.
• Ureteral reflux.
• Dilatation of the renal pelvices.
• Skeletal.
• Hemivertebrae.
• Vertebral fusion.
• Spina bifida.
• Arthrogryposis.
• Cardiac Anomalies are varied, having a frequency of 6.5%.
• Facial Dysmorphism.
• Hypotelorism.
• Brachycephaly.
• Nasal hypoplasia.
• Upslanting palpebral fissures.
• Abnormal ears with fused and slightly rimmed helices with adherent roots.
• Neck.
• Cystic hygroma has been reported.

REFERENCES

1. Berry AC, Mutton DE, Lewis DGM. Mosaicism and the trisomy 8 syndrome. Clin Genet 1978;14:105-114.
2. Guichet A, Briault S, Toutain A et.al. Prenatal diagnosis of trisomy 8 mosaicism in CVS after abnormal ultrasound findings at 12 weeks.
3. Camurri L, Chiesi A. A three year follow-up on a child with low level trisomy 8 mosaicism which was diagnosed prenatally. Prenat Diagn 1991;11:59-62.