Trisomy Disorders

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

Posted on: January 4, 2009

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

Clin Dysmorphol. 2009 Jan

Jezela-Stanek A, Dobrzańska A, Maksym-Gasiorek D, Trzeciakowski W, Gutkowska A, Olczak-Kowalczyk D, Gajdulewicz M, Spodar K, Czech-Kowalska J, Krajewska-Walasek M.
Department of Medical Genetics, Children’s Memorial Health Institute, Warsaw, Poland. jezela@gmail.com

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 a constellation of features typical of CES, including coloboma, auricular malformations, heart and renal anomalies, as well as hepatic dysfunction, which led to severe effects. In one case Pierre Robin sequence was diagnosed which has not been described earlier in this trisomy. Although CES is a well known, but infrequently diagnosed disorder, we draw attention both to its clinical overlaps with other disorders and, in view of the clinical variability being identified within the 22q11 region, to the importance of careful molecular examination of proximal 22q in patients with suggestive clinical signs.

PMID: 18955897 [PubMed – in process]

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