Dergiler / International Archives of Medical Research / 2019 / Cilt: 11 - Sayı: 1

Klinefelter’s syndrome and social handicaps in Southeast of Turkey.

Sayfa
17–25
Yayın Tarihi
2019-06-27
DOI
—
🏛️Bu makalenin bibliyografik verileri ve tam metin bağlantısı DergiPark üzerinden sağlanmıştır.
DergiPark Kaydı ↗
✨

Yapay Zeka Hızlı Bakış & Çıkarımlar

AI Insight
⚡ TL;DR(1 Cümlede Hızlı Çıkarım)

Chromosomal analysis is strongly suggested particularly in those who suffer fertility problems.

📌 3 Maddede Bu Makale

🎯
Amaç & Hipotez:The term Klinefelter syndrome (KS) describes a group of chromosomal disorder in which there is at least one extra X chromosome to a normal male karyotype, 46,XY.
📊
Temel Bulgular & Veri:XXY aneuploidy is the most common disorder of sex chromosomes in humans, with prevalence of one in 500 males.
💡
Sonuç & Katkı:Chromosomal analysis is strongly suggested particularly in those who suffer fertility problems.
🔬Tür:Araştırma Makalesi
📍Kapsam:2010 Verileri
⚙️Değişkenler:Chromosomal abnormality · Male infertility

Abstract

The term Klinefelter syndrome (KS) describes a group of chromosomal disorder in which there is at least one extra X chromosome to a normal male karyotype, 46,XY. XXY aneuploidy is the most common disorder of sex chromosomes in humans, with prevalence of one in 500 males. Other sex chromosomal aneuploidies have also been described, although they are much less frequent, with 48,XXYY and 48,XXXY being present in 1 per 17,000 to 1 per 50,000 male birthsIn this study we aimed to evaluate the postnatally screened karyotype results in man who were referred diagnosis of Klinefelter syndrome between 1998 and 2010 in the city of Diyarbakir, Southeast Turkey.High resolution Giemsa banding chromosome analysis and/or fluorescence in situ hybridization were done males diagnosis of Klinefelter syndrome . A total of 552 cases were evaluated retrospectively.One hundred twenty out of 552 (21.74%) cases showed of Klinefelter syndrome.Genetic counseling was provided for the cases that received Klinefelter syndrome results. The rate of gonosomal chromosomal abnormalities was social problem in our region. Chromosomal analysis is strongly suggested particularly in those who suffer fertility problems.

🔖

Bu Makaleye Atıf Yap

ORAL, D., ŞİMŞEK, S., TÜRKYILMAZ, A., YÜCEL, İ., TEKES, S., BALKAN, M. (2019). Klinefelter’s syndrome and social handicaps in Southeast of Turkey.. International Archives of Medical Research, Cilt: 11 - Sayı: 1, 17–25. https://ajindex.com/articles/764783

📄 Tam Metin PDF Okuyucu

📄

PDF görüntüleyici hazırlanıyor...

Kaynakça (12)

  1. Klinefelter HF, Reifenstein EC, Albright F. Syndrome characterized by gynecomastia aspermatogenes without A-Leydigism and increased excretion of follicle stimulating hormone. J Clin Endocrinol Meta(1942) b.;2:615–627
  2. Jacobs PA, Strong JA. A case of human intersexuality having possible XXY sex determining mechanism. Nature (1959).;2:164–167
  3. Nielsen J, Wohlert M. Sex chromosome abnormalities found among 34,910 newborn children: results from a 13-year incidence study in Arthus, Denmark. In: Evans JA, Hamerton JL, editor. Children and Young Adults with Sex Chromosome Aneuploidy Birth Defects: Original Article Series. Vol
  4. New York: Wiley-Liss, for the March of Dimes Birth Defects Foundation; (1991). pp. 209–223
  5. Graham JM, Jr, Bashir AS, Stark RE, Silbert A, Walzer S. Oral and written language abilities of XXY boys: implications for anticipatory guidance. Pediatrics. (1988 ).;81:795–806
  6. Smyth CM, Bremner WJ. Klinefelter syndrome. Arch Intern Med; (1998)158:1309–1314. doi: 10.1001/archinte.158.12.1309
  7. Nielsen JKlinefelter’s syndrome and the XXY syndrome. A genetical, endocrinological and psychiatric-psychological study of thirty-three severely hypogonadal male patients and two patients with karyotype 47, XYY. Acta Psychiatr Scand Suppl.(1969);209:1–353
  8. Netley C, Rovet J. Verbal deficits in children with 47, XXY and 47, XXX karyotypes: A descriptive and experimental study. Brain Lang. (1982) 17(1):58–72 8- Theilgaard APsychologic study of XYY and XXY men. Birth Defects Orig Artic Ser.(1986) 22(3):277–292
  9. Bender BG, Linden MG, Harmon RJNeuropsychological and functional cognitive skills of 35 unselected adults with sex chromosome abnormalities. Am J Med Genet.(2001) 102(4):309–313 10- Boone KB, Swerdloff RS, Miller BL, Geschwind DH, Razani J, Lee A, Gonzalo IG, Haddal A, Rankin K, Lu P, Paul L. Neuropsychological profiles of adults with Klinefelter syndrome. J Int Neuropsychol Soc. (2001);7(4):446–456
  10. Fales CL, Knowlton BJ, Holyoak KJ, Geschwind DH, Swerdloff RS, Gonzalo IG. Working memory and relational reasoning in Klinefelter syndrome. J Int Neuropsychol Soc. 2003;9(6):839–846
  11. Bender BG, Puck MH, Salbenblatt JA, Robinson ADyslexia in 47, XXY boys identified at birth. Behav Genet.(1986 );16(3):343–354
  12. Temple CM, Sanfilippo PM. Executive skills in Klinefelter’s syndrome. Neuropsychologia. (2003) 41(11):1547–1559 14- De Lisi LE, Friedrich U, Wahlstrom J, Boccio-Smith A, Forsman A, Eklund K, Crow TJ Sch