Cat eye syndrome is: (A) Paial trisomy 18, (B) Paial trisomy 13, (C) Paial trisomy 21, (D) Paial trisomy 22
Answer is D. Cat eye syndrome:-Schmid Fraccaro syndrome Paial trisomy of chromosome 22. It is coined cat eye because of the paicular appearance of the veical colobomas in the eyes of some patients. Other features: 1. Anal atresia 2. Unilateral or bilateral iris coloboma 3. Downward slanting palpebral fissure. 4. Preauricular pits/ tags. 5. Cardiac defects 6. Kidney problems 7. Sho stature 8. Intellectual disabilityi 9. Micrognathia 10. Cleft palate Reference: GHAI Essential pediatrics, 8th edition