We checked the features of our two cases against the common features of trisomy 13 reported by Rios et al. [2] as shown in Table 2. Case 1 was a pregnant woman, 27 years of age, who was referred to our laboratory because of a history of malformations detected by USG. The karyotype was 46,XX, rob t(13;13) and the baby girl lived for only 1 month after birth. The parent’s karyotypes were normal. Autopsy Findings. The female fetus at 24 weeks of gestation weighted 300 g and measured 32 cm crown-heel, 23 cm head circumference. The most striking anomaly was a single eye in the mid-forehead (cyclopia), in the face, there was no nasal aperture. Holoprosencephaly, proboscis, microphthalmia and heart septal defects were present in the newborn.Case 2 was a pregnant women, 28 years of age, who was referred to our laboratory for prenatal diagnosis at 14 weeks gestational age due to the history of malformations detected by USG. Prenatal ultrasound scanning revealed cystic hygroma, hydrothorax and hyperechogenic kidneys. The karyotpe was 46,XY, rob(13;13) (Figure 1a and 1b). The mother was induced to give birth after karyotype analyses were completed. The parent’s karyotypes were normal. The aborted fetus was the first pregnancy of this mother and was examined histopathologically. Autopsy Findings. The male fetus weighted 35.1 g and measured 13 cm crown-heel, 9 cm crown-rump, 8 cm head circumference and 1.1 cm foot length. There were cleft lip and cleft palate, and micrognathia of the face. There was postaxial polydactyly of the feet. There was also omphalocele. Histopathologically, the internal organs of the fetus were unremarkable.

Table 2. Common Features of Trisomy 13