PT  - JOURNAL ARTICLE
AU  - J Cervenka
AU  - C A Hansen
AU  - R A Franciosi
AU  - R J Gorlin
TI  - Trisomy 22 with &#039;cat eye&#039; anomaly.
AID  - 10.1136/jmg.14.4.288
DP  - 1977 Aug 01
TA  - Journal of Medical Genetics
PG  - 288--290
VI  - 14
IP  - 4
4099  - http://jmg.bmj.com/content/14/4/288.short
4100  - http://jmg.bmj.com/content/14/4/288.full
SO  - J Med Genet1977 Aug 01; 14
AB  - The case of a 10-month-old girl with an extra G-like chromosome is presented. Quinacrine, trypsin-Giemsa, and reverse banding identified the extra chromosome as no. 22. The phenotype of the patient is unique in that unilateral iris coloboma was observed, unlike the 18 cases of full trisomy 22 already published. This represents the first reported case of full trisomy 22 with this coloboma, or &#039;cat eye&#039; anomaly, which is usually associated with partial trisomy 22. It is suggested that the use of the term &#039;cat eye syndrome&#039; be revised. The terms &#039;partial trisomy 22 syndrome&#039; and &#039;trisomy 22 syndrome&#039; should be used instead.