April 1982

Hematological Abnormalities in Triploidy

Author Affiliations

Divisions of Medical Genetics and Hematology Department of Pediatrics Medical University of South Carolina 171 Ashley Ave Charleston, SC 29425

Am J Dis Child. 1982;136(4):367-369. doi:10.1001/archpedi.1982.03970400085024

Triploidy is a common cause of abortion and stillbirth. The incidence in live births is less than 1 in 20,000.1 Our investigation of a liveborn infant with 69,XXY karyotype disclosed certain hematological abnormalities that may be unique to this syndrome. The possible diagnostic value of these findings prompts this report.

For editorial comment see p 292.

Report of a Case.—A 29-year-old, gravida 3, para 2 woman was admitted to the hospital because of premature onset of labor and polyhydramnios. An ultrasound examination showed twin gestation and a possible omphalocele in both fetuses. An emergency cesarean section was carried out; pediatric surgeons were on call to attend the newborns. On delivery, one of the twins, a boy with an estimated gestational age of 32 weeks and weighing 1,320 g, was found to have a small omphalocele and multiple malformations, including a squarish skull with wide open fontanel and metopic

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