Frequencies and distributions of sex chromosome abnormalities in females with the Turner phenotype: a long-term retrospective study in the southern region of Turkey

Öz Background/aim: The genetic background of Turner syndrome (TS) is highly variable. The correlation between genotype and phenotype is not yet well understood. The aim of this study was to describe the frequencies and distributions of Turner karyotypes and to discuss the phenotype/genotype relation in a very large group of individuals with TS. Materials and methods: The karyotype results of 248 female participants were evaluated retrospectively.Results: Of 248 females with the Turner phenotype, 14.5% had normal karyotypes and 85.5% had Turner karyotypes. About 72.2% of the abnormalities were numerical aberrations and 27.8% were structural aberrations. The most frequent karyotype was monosomy X, which was found in 135 females (63.7%), followed by 44 mosaics (21%), 40 isochromosomes of the long and short arms of chromosome X (19.1%), and 17 deletions of the short and long arms of chromosome X (8.0%). One case of Robertsonian translocation and one case of mosaic TS with marker chromosome were detected. Conclusion: This study shows the frequency and distribution of karyotypes in females with TS. There is great value to be gleaned from studies of females with TS in furthering our understanding of the atypical clinical features associated with TS. Studies involving genetic analyses will be necessary to examine gene expression profiles in girls with TS and identify potential candidate genes underlying the atypical clinical features associated with TS.

Kaynak Göster

Bibtex @ { tbtkmedical576372, journal = {Turkish Journal of Medical Sciences}, issn = {1300-0144}, eissn = {1303-6165}, address = {}, publisher = {TÜBİTAK}, year = {2017}, volume = {47}, pages = {1447 - 1455}, doi = {}, title = {Frequencies and distributions of sex chromosome abnormalities in females with the Turner phenotype: a long-term retrospective study in the southern region of Turkey}, key = {cite}, author = {Tanrıverdi, Nilgün and Demirhan, Osman and Karahan, Dilara Süleymanova and Pazarbaşı, Ayfer} }
APA Tanrıverdi, N , Demirhan, O , Karahan, D , Pazarbaşı, A . (2017). Frequencies and distributions of sex chromosome abnormalities in females with the Turner phenotype: a long-term retrospective study in the southern region of Turkey . Turkish Journal of Medical Sciences , 47 (5) , 1447-1455 . Retrieved from https://dergipark.org.tr/tr/pub/tbtkmedical/issue/45689/576372
MLA Tanrıverdi, N , Demirhan, O , Karahan, D , Pazarbaşı, A . "Frequencies and distributions of sex chromosome abnormalities in females with the Turner phenotype: a long-term retrospective study in the southern region of Turkey" . Turkish Journal of Medical Sciences 47 (2017 ): 1447-1455 <https://dergipark.org.tr/tr/pub/tbtkmedical/issue/45689/576372>
Chicago Tanrıverdi, N , Demirhan, O , Karahan, D , Pazarbaşı, A . "Frequencies and distributions of sex chromosome abnormalities in females with the Turner phenotype: a long-term retrospective study in the southern region of Turkey". Turkish Journal of Medical Sciences 47 (2017 ): 1447-1455
RIS TY - JOUR T1 - Frequencies and distributions of sex chromosome abnormalities in females with the Turner phenotype: a long-term retrospective study in the southern region of Turkey AU - Nilgün Tanrıverdi , Osman Demirhan , Dilara Süleymanova Karahan , Ayfer Pazarbaşı Y1 - 2017 PY - 2017 N1 - DO - T2 - Turkish Journal of Medical Sciences JF - Journal JO - JOR SP - 1447 EP - 1455 VL - 47 IS - 5 SN - 1300-0144-1303-6165 M3 - UR - Y2 - 2021 ER -
EndNote %0 Turkish Journal of Medical Sciences Frequencies and distributions of sex chromosome abnormalities in females with the Turner phenotype: a long-term retrospective study in the southern region of Turkey %A Nilgün Tanrıverdi , Osman Demirhan , Dilara Süleymanova Karahan , Ayfer Pazarbaşı %T Frequencies and distributions of sex chromosome abnormalities in females with the Turner phenotype: a long-term retrospective study in the southern region of Turkey %D 2017 %J Turkish Journal of Medical Sciences %P 1300-0144-1303-6165 %V 47 %N 5 %R %U
ISNAD Tanrıverdi, Nilgün , Demirhan, Osman , Karahan, Dilara Süleymanova , Pazarbaşı, Ayfer . "Frequencies and distributions of sex chromosome abnormalities in females with the Turner phenotype: a long-term retrospective study in the southern region of Turkey". Turkish Journal of Medical Sciences 47 / 5 (Ekim 2017): 1447-1455 .
AMA Tanrıverdi N , Demirhan O , Karahan D , Pazarbaşı A . Frequencies and distributions of sex chromosome abnormalities in females with the Turner phenotype: a long-term retrospective study in the southern region of Turkey. Turkish Journal of Medical Sciences. 2017; 47(5): 1447-1455.
Vancouver Tanrıverdi N , Demirhan O , Karahan D , Pazarbaşı A . Frequencies and distributions of sex chromosome abnormalities in females with the Turner phenotype: a long-term retrospective study in the southern region of Turkey. Turkish Journal of Medical Sciences. 2017; 47(5): 1447-1455.
IEEE N. Tanrıverdi , O. Demirhan , D. Karahan ve A. Pazarbaşı , "Frequencies and distributions of sex chromosome abnormalities in females with the Turner phenotype: a long-term retrospective study in the southern region of Turkey", Turkish Journal of Medical Sciences, c. 47, sayı. 5, ss. 1447-1455, Eki. 2017

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