Triploidy syndrome

General: Extra set of chromosomes due to diandry or digyny; stillbirth or early neonatal death.

Ocular: Iris coloboma; microphthalmia; hypertelorism.

Clinical: Large placenta; prenatal growth deficits; large fontanelles; syndactyly; heart defects; cleft lip; genital, brain, ear, and kidney malformations; meningomyelocele; micrognathia.

Arvidsson CG, et al. A boy with complete triploidy and unusually long survival. Acta Paediatr Scand 507-510.

Crane JP, Beaver HA, Cheung SW. Antenatal ultrasound findings in fetal triploidy syndrome. J Ultrasound Med 1985; 4:519-524.

Kaufman MH. New insights into triploidy and tetraploidy, from an analysis of model systems for these conditions. Hum Reprod 1991; 6:8-l6.

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

O'Brien WF, et al. Elevated maternal serum alpha-fetoprotein in triploidy. Obstet Gynecol 1988; 71[6 Part 2]: 994-995.

Rubenstein JB, et al. Placental changes in fetal triploidy syndrome. J Ultrasound Med 1986; 5:545-550.

Strobel SL, Brandt JT. Abnormal hematologic features in a live-born female with triploidy. Arch Pathol Lab Med 1985; 109:775-777.

Walker S. et al. Three further cases of triploidy in man surviving to birth. J Med Genet 1973; 10:135-l41.