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Familial t(1;17)(p34;q25) balanced translocation carrier with mental retardation and epilepsy cases: Scientific letter
Guenes, Sezgin Oezguer; Kara, Nurten; Oekten, Guelsen; Tasdemir, Haydar Ali; Sezer, Oezlem Tuerkeli; Yigit, Serbuelent; Ogur, Goenuel (Ortadogu Ad Pres & Publ Co, 2008)Reciprocal translocations, the most frequent structural aberration in humans, are mainly transmitted by one of the parents. Balanced reciprocal translocations occur at a frequency of approximately I in 600 live births. ... -
A Retrospective Study in Cases with Sex Chromosome Anomaly in Samsun and Around
Okten, Guelsen; Kara, Nurten; Gunes, Sezgin; Tural, Senguel Bekar; Yigit, Serbuelent; Pinarli, Ferda Alpaslan (Ortadogu Ad Pres & Publ Co, 2009)Objective: Chromosomes have a major role in the etiology of disorders associated with sexual development is study, we investigated the frequency of chromosome anomalies in patients with sex anomaly. Material and Methods: ... -
Triploidy syndrome with 69,XXX karyotype: Case report
Guenes, Sezgin; Acikgoez, Yonca; Kara, Nurten; Oekten, Guelsen; Sezer, Oezlem; Yigit, Serbuelent (Ortadogu Ad Pres & Publ Co, 2007)Triploidy is a chromosomal abnormality characterized by the presence of an additional haploid set of chromosomes. Triploidy is estimated to occur in 3% of conceptions. Most triploids are aborted spontaneously in the first ... -
Two turner syndrome patients with the mosaic 45,X/46,X,i(Xq) karyotype: Case report
Gunes, Sezgin; Kara, Nurten; Surucu, Bulent; Okten, Gulsen; Yigit, Serbuelent; Sezer, Ozlem (Ortadogu Ad Pres & Publ Co, 2008)Turner's syndrome is one of the most common chromosomal aneuploidy disorders. Turner's syndrome occurs in 1 in 4000 live-born girls and approximately 5 to 10 percent of them have mosaic isochromosome 45,X/46,X,i(Xq). ...