Balkan Journal of Medical Genetics

INHERITANCE OF A CHROMOSOME 3 AND 21 TRANSLOCATION IN THE FETUSES, WITH ONE ALSO HAVING TRISOMY 21, IN THREE PREGNANCIES IN ONE FAMILY
Pazarbasi A1,*, Demirhan O1, Alptekin D1, Ozgunen FT2, Ozpak L1, Yilmaz MB1, Nazlican E3, Tanriverdi N1, Luleyap U1, Gümürdülü D4
*Corresponding Author: Associate Professor Ayfer Pazarbasi (Ph.D.), Çukurova University, Faculty of Medicine, Department of Medical Biology and Genetics, 01330 Adana, Turkey; Tel.: +90-322-338-6060/3498; Fax: +90-322-338-6572; E-mail: payfer@cu.edu.tr
page: 91

MATERIALS AND METHODS

Subjects. A 30-year-old woman with a history of two previous pregnancies was referred by the Department of Obstetrics and Gynecology, Çukurova University, Adana, Turkey, to our genetics laboratory for prenatal diagnosis due to having a terminated pregnancy because of a fetus with Down Syndrome and a risk of positive triple test screening at 16 weeks of gestation. The biopsy of the terminated fetus was performed by the pathology department of our faculty for confirmation. The woman and her 35-year-old husband were healthy and phenotypically normal. Both parents were subjected to chromosomal analysis, based on standard blood lymphocyte culture and G-banding techniques. Twenty metaphases were microscopically analyzed for the parents. They were not consanguineous and the mother had become pregnant a total of three times, as can be seen in the pedigree of the family (Figure 1). Of these three pregnancies, only one resulted in the birth of a phenotypically and karyotypically normal male baby. Cytogenetic Analyses and Findings. Karyotypes of the fetuses of the second generation of the family’s pedigree were performed on fetal cells that were obtained from the amniotic fluid sample by using a long-term cell culture. After adequate growth, cultures were harvested after an average 8 to 10 days. Karyotyping was routinely performed by G-banding using the trypsin-Giemsa staining technique. At least 20 metaphases were analyzed. Chromosome analysis confirmed that all cells of the mother had a translocation between chromosomes 3 and 21; her karyotype was 46,XX,t(3;21)(q21;q22) (Figure 2). The father’s karyotype was normal. In the mother’s first pregnancy, the fetus was a carrier of the translocation between chromosomes 3 and 21 with trisomy 21; the karyotype of these fetus was 47,XX,+21,t(3;21)(q21;q22) (Figure 3). The family decided to terminate the pregnancy in the second trimester. The diagnosis of Down Syndrome was verified at the clinical examination of the terminated fetus. Bilateral telecanthus (+), nose origin flatness (+), back of neck was short and abundant nuchal skin with cystic hygroma residues (Figure 4A, 4B and 4C). Brachydactylia was also seen on the right hand’s third finger (+) and clinodactyly of both right and left hands’ fifth finger (+) (Figure 4A, 4B and 4C). Simian line was observed on both right and left hands (Figure 4A, 4B and 4C). The fetus was phenotypic-ally female. Of these pregnancies, only the second resulted with the birth of phenotypically and karyotypically normal male baby. In the third pregnancy, the fetus was a carrier of the translocation between chromosomes 3 and 21; the karyotype of this fetus was 46,XX,t(3;21)(q21;q22) (Figure 5). This pregnancy was also terminated in the second trimester at the family decision.

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