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

Abstract

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.

• Authors: Aleksandra Jezela-Stanek, Anna Dobrzańska, Dorota Maksym-Gąsiorek, Wojciech Trzeciakowski, Anna Gutkowska, Dorota Olczak-Kowalczyk, Maria Gajdulewicz, Krystyna Spodar, Justyna Czech-Kowalska, Małgorzata Krajewska-Walasek
• Journal: Clinical dysmorphology (Clin Dysmorphol) Vol. 18 Issue 1 Pg. 13-17 (Jan 2009) ISSN: 1473-5717 [Electronic] England
• PMID: 18955897 (Publication Type: Journal Article, Research Support, Non-U.S. Gov't)

Topics

• Chromosomes, Human, Pair 22
• Eye Abnormalities (genetics)
• Female
• Humans
• Infant, Newborn
• Liver (physiopathology)
• Male
• Syndrome
• Trisomy