Trisomy 22pter-q12.3 presenting with hepatic dysfunction variability of cat-eye syndrome.

摘要: We describe the clinical characteristics of two patients with cat-eye syndrome (CES, MIM #115470) resulting from a supernumerary marker chromosome that includes 22pter-q12.3. They both presented constellation features typical CES, including coloboma, auricular malformations, heart and renal anomalies, as well hepatic dysfunction, which led to severe effects. In one case Pierre Robin sequence was diagnosed has not been described earlier in this trisomy. Although CES is known, but infrequently disorder, we draw attention its overlaps other disorders and, view variability being identified within 22q11 region, importance careful molecular examination proximal 22q suggestive signs.