Prenatal diagnostics can reveal ring chromosomes, which are rare abnormalities. In ring chromosomal pathology of the 4th chromosomes, deletion in the distal area of 4p and 4q was common, and terminal deletion in the 4p frequently included the Wolf–Hirschhorn Syndrome (WHS) essential region. The goal of this work was to investigate using modern molecular techniques the aberrant phenotypes of a prenatal diagnostic case with ring chromosome 4 in chromosomal analysis. A 23-year-old woman (gravida 1, para 0) was referred for amniocynthesis in the 16th week of her second pregnancy after receiving an abnormal maternal serum screening result. Out ring chromosome 4 was discovered through cytogenetic study of cultured amniotic fluid cells. Both the mother's and father's karyotypes were normal. In situ fluorescence hybridization (FISH) both the 4p and 4q arms of ring chromosome 4 showed terminal deletion. However, further FISH studies demonstrated no loss in the WHS critical location of both normal and ring chromosome 4 in both normal and ring chromosome 4. Array-CGH validated our findings, revealing terminal deletions on 4p16.3 (130 kb) and 4q35.2 (2.449 Mb). According to our review of the literature, this is the first prenatal example of 4p and 4q subtelomeric deletion of ring chromosome 4 without the involvement of the WHS critical area. Our study reports a foetal case with a ring chromosome 4 aberration that was thoroughly characterised by array-CGH and provided detailed information for prenatal diagnostic genetic counselling.
Author(S) Details
Halit Akbas
Department of Medical Biology, Harran University, Faculty of Medicine, Sanliurfa, Turkey.
Naci Cine
Department of Medical Genetics, Kocaeli University, Faculty of Medicine, Kocaeli, Turkey.
Mahmut Erdemoflu
Department of Gynecology and Obstetrics, Dicle University, Faculty of Medicine Diyarbakir, Turkey.
Ahmet Engin Atay
Department of Internal Medicine, Bagcilar Education and Research Hospital, Istanbul, Turkey.
Selda Simsek
Department of Medical Biology and Genetics, Dicle University, Faculty of Medicine, Diyarbakir, Turkey.
Mahmut Balkan
Department of Medical Biology and Genetics, Dicle University, Faculty of Medicine, Diyarbakir, Turkey.
Aysegul Turkyilmaz
Department of Medical Biology and Genetics, Dicle University, Faculty of Medicine, Diyarbakir, Turkey.
Mehmet Fidanboy
Department of Medical Biology and Genetics, Dicle University, Faculty of Medicine, Diyarbakir, Turkey.
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