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Pediatrics Genetic and genetic disorders c1b1957b

Cat eye syndrome is

A
Paial trisomy 18
B
Paial trisomy 13
C
Paial trisomy 21
D
Paial trisomy 22
High-Yield Explanation
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

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