A woman with balanced ROB translocation (14;21): case report

Cytogenetic studies have revealed more number of females in spontaneous abortion. Family history, analysis of pedigree, and karyotypes of the parents are the basic factors at estimating the risks. In this study, the clinical feature of the rob(14;21)(q10;q10) with mother is presented based on the literature. Family members were sent to laboratory of medical genetics because of habitual abortus. Conventional cytogenetic techniques were performed for these patients. The karyotype of the mother was found as 45,XX, rob(14;21)(q10q10). The karyotypes of the father was normal (46,XY).

Dengeli ROB translokasyonu (14;21) olan bir kadýn: Olgu sunumu

Sitogenetik çalýþmalar, spontan abortusda çok sayýda kadýnda açýklayýcý özelliðe sahiptir. Aile hikayesi, pedigri analizi ve parental karyotipler risk tahmininde temel faktörlerdir. Bu çalýþmada, rob(14;21) (q10;q10) olan bir annenin klinik özeliði literatür bilgileri ýþýðýnda sunulmuþtur. Habituel abortus sebebiyle laboratuarýmýza gönderilen bir ailenin, konvansiyonel sitogenetik tekniklerle incelemeleri yapýldý. Sitogenetik analiz sonucunda annenin karyotipi 45,XX, rob(14;21)(q10;q10) olarak tespit edildi. Babanýn karyotipi normal idi (46,XY).