3B Translocation Syndrome 1231

General: Chromosomal anomaly transmitted by the female but not the male carrier.

Ocular: Iris coloboma; corneal opacity; proptosis; strabismus.

Clinical: Low birth weight; micrognathia; small ears; cleft lip and palate; cardiac defects; ventricular septal defect; atrial septal defect; absent ductus arteriosus; pulmonary arterial diverticulum; right aortic arch; absent pulmonic valve.

Magalini SI, Scrascia E. Dictionary of Medical Syndromes, 2nd ed. Philadelphia: JB Lippincott, 1981.

Walzer S, et al. A new translocation syndrome (3/B). N Engl J Med 1966; 275:290-298.