A. GÜVEN, Ş. KOÇAK, M. AYDIN, G. ÖKTEN, G. OĞUR

X İzokromozomuna Sahip Turner Sendromlu Bir Olgu Sunumu

A Case Presentation of Turner's Syndrome with X Isochromosome Classic Turner's Syndrome which has severe findings is the most common cytogenetic type of Turner's Syndrome. i(Xq) isochromosome is also a common cytogenetic abnormality and cases have generally milder clinics than classic Turner's Syndrome. In this report, we present a case of Turner's Syndrome with a characteristic isochromosome i(Xq) structure which exhibits a milder clinical finding due to the lack of signs such as low posterior hairline, prominent webbed neck, shield chest, kidney and congenital heart abnormalities. Klasik Turner Sendromu Turner Sendromunun en sık görülen sitogenetik tipi olup daha ağır bulgularla seyreder. İzokromozom i(Xq) yapısı ise daha az sıklıkla gözlenen sitogenetik bir anomali olup olgular genelde klasik Turner sendromu'na göre daha hafif bir kliniğe sahiptir. Bu yazıda, klinik olarak düşük saç çizgisi, belirgin yele boyun, kalkan göğüs, böbrek ve konjenital kalp anomalisi bulguları olmayan daha hafif kliniğe sahip izokromozom i(Xq) yapısındaki Turner sendrom'lu bir olgu sunulmaktadır.

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Turner HH. A syndrome of infantilism, congenital webbed neck and cubitus valgus. Endocr 1938; 23: 566–574.
Yüksel M, Uzunalimoğlu A, Oğur G. Cytogenetic Findings in Turner’s Syndrome. J Ank Med S 1987; 9: 145–154.
Schmid W, Naef E, Mürset G, et al. Cytogenetic find- ings in 89 cases of Turner’s syndrome with abnormal karyotypes. Hum. Genet 1974; 24: 93–104.
Zinman B, Kabiawu SIO, Moross T, et al. Endocrine, Cytogenetic and Psychometric Features of Patients with X-Isochromosome 46, X, i(Xq) Turner’s Syndrome: A Preliminary Study in Nine Patients. Clin & Invest Med 1984; 7: 135–141.
Carothers AD, Mey RD, Daker M, et al. An Aetiological Study of Isochromosome X Turner’s Syndrome. Clin Genet 1989; 36: 53–58.
Lindsten J, Fraccaro M, Ikkos O, et al. Presumptive isochromosome for the long arm of the X in man. Analysis of five families. Ann Hum. Genet 1963; 26: 383.
Kerdanet M, Lucas J, Lemee F, et al. Turner’s Syndrome with X-isochromosome and Hashimoto’s thyroiditis. Clin Endocr 1994; 41: 673–676.
Sparkes RS, Motulsky AG. The Turner Syndrome with Isochromosome X and Hashimoto’s Thyroiditis. Ann Int Med 1967; 67:132–144.
Lorda-Sanchez I, Binkert F, Maechler M, et al. A m o lecular Study of X Isochromosomes: Parental Origin, Centromeric Structure, and Mechanisms of Formation. Am J Hum. Genet 1991; 49: 1034–1040.
Otto PA, Otto PG. Paternal and Maternal origin of
human i(Xq) isochromosomes. Am J Hum. Genet 1981; 59: 308–309.