PT  - JOURNAL ARTICLE
AU  - F P Garcia
AU  - L Y Hsu
AU  - H Fox
AU  - D Gribetz
TI  - Trisomy 13 and Rubinstein-Taybi syndrome.
AID  - 10.1136/jmg.12.1.104
DP  - 1975 Mar 01
TA  - Journal of Medical Genetics
PG  - 104--105
VI  - 12
IP  - 1
4099  - http://jmg.bmj.com/content/12/1/104.short
4100  - http://jmg.bmj.com/content/12/1/104.full
SO  - J Med Genet1975 Mar 01; 12
AB  - Initial diagnosis of Rubinstein-Taybi syndrome was made in an infant with a prominent nose and broad thumbs and first toes. However, due to the presence of other anomalies such as low-set, malformed ears, anti-mongoloid slant of the eyes, colobomata of the iris, and cleft palate, cytogenetic studies were carried out and the diagnosis of trisomy 13 was confirmed. Since, occasionally, trisomy 13 syndrome may mimic the Rubinstein-Taybi syndrome, cytogenetic studies should be considered in all patients with clinical diagnosis of Rubinstein-Taybi syndrome.