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Fırat Tıp Dergisi
2007, Cilt 12, Sayı 3, Sayfa(lar) 239-242
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A Case with 47,XYY Syndrome
Gülay Güleç CEYLAN, Ülkü ÖZBEY, Hüseyin YÜCE, Halit ELYAS
Fırat Üniversitesi Tıp Fakültesi Tıbbi Biyoloji ve Genetik Anabilim Dalı, ELAZIĞ

Extra Y chromosome occurs relatively common in males. The incidence of it is one in 1000 male newborn. A defect of disjunction occurs either during paternal meiosis II or postzygotic mitotic error. These two conditions have been seen rarely in other chromosomes. It has been known that sex chromosome abnormalities are associated with psychosis. Extra Y chromosome genes in 47,XYY males cause larger craniofacial sizes compared to normal males. Recently it has been focused on XYY constitution. Individuals with XYY karyotype shows a male phenotype. They are tall and have normal intelligence. But it has not been solved yet exactly the association between abnormal chromosomes and behavioural conformation. In the presentation of this case, it has been aimed to resolve the socio-psychologic problems at the patients and his/her relatives and to be a guide to doctors about this subject. The karyotype of the case was established as 47,XYY in the result of the cytogenetic analysis. To exclude the mosaicism, the existence of extra Y chromosome was determined by interphase FISH besides a number of metaphase analysis. The sexuality was determined to manifest exactly the existence of extra Y chromosome by using primers specific to pseudoautosomal region (PAR). Genomic DNA was extracted from peripheral leukocytes collected from a venous blood sample. In the cases with this syndrome, clinical follow-up, diagnosis course and the ways that must be followed in appropriate socio-psychologic approaches have been discussed based on the literature. ©2007, Firat University, Medical Faculty

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