Cat eye syndrome is –

Correct Answer: Paial trisomy 22
Description: Ans. is 'd' i.e., Paial Trisomy 22 Cat eve syndrome o The supernumerary cat eye syndrome (CES) chromosome is dicentric, containing two copies 22g11. Features i) Ocular cloboma of iris, choroid or optic nerve vii) Cystic dysplasia ii) Preauricular skin tags or pits viii) Mild mental retardation iii) Congenital hea disease ix) Microphthalmia iv) Anal atresia with fistula x) Microtia with atresia of the external meatus v) Renal malformation --> U/L renal agenesis xi) Intra-or extra hepatic biliary atresia vi) Antimongoloid slant of eye. xii) Malrotation of gut.
Category: Pediatrics
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