Triploidy syndrome with 69,XXX karyotype: Case report

Abstract

Triploidy is a chromosomal abnormality characterized by the presence of an additional haploid set of chromosomes. Triploidy is estimated to occur in 3% of conceptions. Most triploids are aborted spontaneously in the first trimester, while those who proceed to live birth die at an early postnatal stage. These fetuses have multiple severe congenital abnormalities and growth restriction. In this article, we presented an infant who lived for 12 days. Chromosomal analysis was performed from peripheral blood samples using standard procedures on the fourth day of life. Chromosomal analysis demonstrated 69,XXX karyotype with no evidence of mosaicism. The infant showed the common clinical features of 69,XXX liveboms such as hypotonia, respiratory distress, low-set and malformed ears, cutaneous syndactyly and overlapping of fingers.