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The Case with Primary Amenorrhea Presented with A 46,X,del(X),(q23)

Year 2005, Volume: 10 Issue: 4, 179 - 181, 01.08.2005

Abstract

Turner's syndrome is the most common chromosomal abnormality in women, affecting 1:2,500 live female births. A variety of structural abnormalities have been identified for the X chromosome. Xq deletions were identified in 3-4.4% of cases with Turner's syndrome. The case presented at short stature, primary amenorrhea, hypoplasic uterus and hyperthyroidism. Case karyotype was determined as 46,X,del(X)(q23) by cytogenetic analysis of peripheral blood. This karyotype was not determined in cases presented with some Turner's syndrome stigmata in the literature. Xq- cases have variable phenotype. The most likely explanation for the variable phenotypic effect of Xq- is to assume that growth gene(s) in Xp or Xq are inactivated similar to skewed X inactivation seen in some X-autosome translocations. Another reason of phenotypic variation, inactivation center(s) and active genes on inactive chromosome could explain the manifestation or the absence of clinical symptoms in X deletions. The role played by the "critical region" (Xq13-q24) in ovarian development is still unclear. ©2005, Fırat Üniversitesi, Tıp Fakültesi

References

  • Ogata T, Matsuo N, Fukushima Y et al. FISH Analysis for apparently simple terminal deletions of the x chromosome: identification of hidden structural abnormalities. Am J Med Genet 2001; 311: 104-307.
  • Elsheıkh M, Dunger DB, Conway GS, Wass JAH. Turner’s syndrome in Adulthood Endocr Rev 2002; 23:120–140.
  • Kim SS, Jung SC, Kim HJ, Moon HR, Lee JS. Chromosome abnormalities in a referred population for suspected chromosomal aberrations: a report of 4117 cases. J Korean Med Sci 1999; 14: 373-6.
  • Brown LY, Alonso ML, Yu J, Warburton D, Brown S. Prenatal diagnosis of a familial Xq deletion in a female fetus: a case report. Prenat Diagn 2001; 21: 27-30.
  • Therman E, Susman B. The similarity of phenotypic effects caused by Xp and Xq deletions in the human female; a hypothesis. Hum Genet 1990; 85: 175–183.
  • Ogata T, Matsuo N. Turner syndrome and female sex chromosome aberrations: deduction of the principal factors involved in the development of clinical features. Hum Genet 1995; 95 : 607–629.
  • Skibsted L, Westh H, Niebuhr E. X long arm deletions. A review of non mosaic cases studied with banding techniques. Hum Genet 1984; 67: 1–5.
  • Trunca C, Therman E, Rosenwaks Z.The phenotypic effects of small, Xq deletions. Hum Genet 1984; 1: 87-89
  • Maraschio P, Tupler R, Barbierato L et al. An analysis of Xq deletions. Hum Genet 1996; 97 : 375–381.
  • Marozzi A, Manfredini E, Tibiletti GM et al. Molecular definition of Xq common-deleted region in patients affected by premature ovarian failure. Hum Genet 2000; 107: 304–311.
  • Mesa-Cornejo VM, Garcia-Cruz D, Monroy-Jaramillo N et al. Del Xq23 in a Mosaic Turner Female: Molecular and Cytogenetic Studies. Ann Genet 2001; 44:171–174.
  • Rosenberg T, Niebuhr E, Yang HM, Parving A, Schwartz M. Choroideremia, congenital deafness and mental retardation in a family with an X chromosomal deletion. Ophtalmic Pediatr Genet 1987; 8: 139-143.
  • Cremers FP, van de Pol TJ, Wiering B. Molecular analysis of male-viable deletions and duplications allows ordering of 52 DNA probes on proximal Xq. Am J Hum Genet 1988; 43: 452461.
  • Wolff DJ, Gustashaw KM, Zurcher V. Deletions in Xq26.3-q27.3 including FMR1 result in a severe phenotype in a male variable phenotypes in females depending upon the X inactivation pattern. Hum Genet 1997; 100: 256-261.
  • Gererkens C, Just W, Vogel W. Deletions of Xq and growth deficit: a review. Am J Med Genet 1994; 2: 105-13.
  • Schellhas HF. Malignant potential of the dysgenetic gonad. Part 1. Obstet Gynecol 1974; 2:289-309.

46,X,del(X)(q23) Karyotipine Sahip Primer Amenoreli Olgu

Year 2005, Volume: 10 Issue: 4, 179 - 181, 01.08.2005

Abstract

Turner sendromu, yaşayan kadınlarda 1:2500 sıklıkla görülen en yaygın kromozomal anomalidir. Bu güne kadar X kromozomu ile ilgili olarak pek çok yapısal anomali tanımlanmıştır. Xq delesyonlarına, Turner Sendromlu bireylerin %3-4.4'ünde rastlanmaktadır. Sunulan olgu kısa boy, primer amenore, hipoplazik uterus and hipertiroidi göstermekteydi. Probandın karyotipi, periferik kandan yapılan sitogenetik inceleme sonucu, 46,X,del(X)(q23) olarak saptandı. Literatürde bu karyotipe sahip bazı Turner Sendrom stigmatlarını taşıyan olguya rastlanmamıştır. Xq- olgularda fenotip oldukça değişkendir. Bunun en önemli nedenlerinden biri Xp veya Xq'daki gelişim genlerinin bazı X otozom translokasyonlarında görülen bozuk X inaktivasyonuna benzer şekilde inaktive olmasıdır. X kromozom delesyonlarındaki fenotip değişkenliğinin diğer bir nedeni inaktif X kromozom üzerindeki genlerin veya inaktivasyon bölgesinin etkilenmesidir. Ovarian gelişimde Xq13-24 kritik bölgesinin oynadığı rol hala açık değildir. ©2005, Fırat Üniversitesi, Tıp Fakültesi

References

  • Ogata T, Matsuo N, Fukushima Y et al. FISH Analysis for apparently simple terminal deletions of the x chromosome: identification of hidden structural abnormalities. Am J Med Genet 2001; 311: 104-307.
  • Elsheıkh M, Dunger DB, Conway GS, Wass JAH. Turner’s syndrome in Adulthood Endocr Rev 2002; 23:120–140.
  • Kim SS, Jung SC, Kim HJ, Moon HR, Lee JS. Chromosome abnormalities in a referred population for suspected chromosomal aberrations: a report of 4117 cases. J Korean Med Sci 1999; 14: 373-6.
  • Brown LY, Alonso ML, Yu J, Warburton D, Brown S. Prenatal diagnosis of a familial Xq deletion in a female fetus: a case report. Prenat Diagn 2001; 21: 27-30.
  • Therman E, Susman B. The similarity of phenotypic effects caused by Xp and Xq deletions in the human female; a hypothesis. Hum Genet 1990; 85: 175–183.
  • Ogata T, Matsuo N. Turner syndrome and female sex chromosome aberrations: deduction of the principal factors involved in the development of clinical features. Hum Genet 1995; 95 : 607–629.
  • Skibsted L, Westh H, Niebuhr E. X long arm deletions. A review of non mosaic cases studied with banding techniques. Hum Genet 1984; 67: 1–5.
  • Trunca C, Therman E, Rosenwaks Z.The phenotypic effects of small, Xq deletions. Hum Genet 1984; 1: 87-89
  • Maraschio P, Tupler R, Barbierato L et al. An analysis of Xq deletions. Hum Genet 1996; 97 : 375–381.
  • Marozzi A, Manfredini E, Tibiletti GM et al. Molecular definition of Xq common-deleted region in patients affected by premature ovarian failure. Hum Genet 2000; 107: 304–311.
  • Mesa-Cornejo VM, Garcia-Cruz D, Monroy-Jaramillo N et al. Del Xq23 in a Mosaic Turner Female: Molecular and Cytogenetic Studies. Ann Genet 2001; 44:171–174.
  • Rosenberg T, Niebuhr E, Yang HM, Parving A, Schwartz M. Choroideremia, congenital deafness and mental retardation in a family with an X chromosomal deletion. Ophtalmic Pediatr Genet 1987; 8: 139-143.
  • Cremers FP, van de Pol TJ, Wiering B. Molecular analysis of male-viable deletions and duplications allows ordering of 52 DNA probes on proximal Xq. Am J Hum Genet 1988; 43: 452461.
  • Wolff DJ, Gustashaw KM, Zurcher V. Deletions in Xq26.3-q27.3 including FMR1 result in a severe phenotype in a male variable phenotypes in females depending upon the X inactivation pattern. Hum Genet 1997; 100: 256-261.
  • Gererkens C, Just W, Vogel W. Deletions of Xq and growth deficit: a review. Am J Med Genet 1994; 2: 105-13.
  • Schellhas HF. Malignant potential of the dysgenetic gonad. Part 1. Obstet Gynecol 1974; 2:289-309.
There are 16 citations in total.

Details

Primary Language Turkish
Journal Section Articles
Authors

Hüseyin Yüce This is me

Ebru Etem This is me

Bilgin Gürateş This is me

Halit Elyas This is me

Publication Date August 1, 2005
Published in Issue Year 2005 Volume: 10 Issue: 4

Cite

APA Yüce, H., Etem, E., Gürateş, B., Elyas, H. (2005). 46,X,del(X)(q23) Karyotipine Sahip Primer Amenoreli Olgu. Fırat Tıp Dergisi, 10(4), 179-181.
AMA Yüce H, Etem E, Gürateş B, Elyas H. 46,X,del(X)(q23) Karyotipine Sahip Primer Amenoreli Olgu. Fırat Tıp Dergisi. August 2005;10(4):179-181.
Chicago Yüce, Hüseyin, Ebru Etem, Bilgin Gürateş, and Halit Elyas. “46,X,del(X)(q23) Karyotipine Sahip Primer Amenoreli Olgu”. Fırat Tıp Dergisi 10, no. 4 (August 2005): 179-81.
EndNote Yüce H, Etem E, Gürateş B, Elyas H (August 1, 2005) 46,X,del(X)(q23) Karyotipine Sahip Primer Amenoreli Olgu. Fırat Tıp Dergisi 10 4 179–181.
IEEE H. Yüce, E. Etem, B. Gürateş, and H. Elyas, “46,X,del(X)(q23) Karyotipine Sahip Primer Amenoreli Olgu”, Fırat Tıp Dergisi, vol. 10, no. 4, pp. 179–181, 2005.
ISNAD Yüce, Hüseyin et al. “46,X,del(X)(q23) Karyotipine Sahip Primer Amenoreli Olgu”. Fırat Tıp Dergisi 10/4 (August 2005), 179-181.
JAMA Yüce H, Etem E, Gürateş B, Elyas H. 46,X,del(X)(q23) Karyotipine Sahip Primer Amenoreli Olgu. Fırat Tıp Dergisi. 2005;10:179–181.
MLA Yüce, Hüseyin et al. “46,X,del(X)(q23) Karyotipine Sahip Primer Amenoreli Olgu”. Fırat Tıp Dergisi, vol. 10, no. 4, 2005, pp. 179-81.
Vancouver Yüce H, Etem E, Gürateş B, Elyas H. 46,X,del(X)(q23) Karyotipine Sahip Primer Amenoreli Olgu. Fırat Tıp Dergisi. 2005;10(4):179-81.