You are here

Home » Content

45,X/46,XY Karyotipine Sahip Ullrich-Turner Sendromlu Bir Olgu

A Case of Ullrich-Turner Syndrome with 45,X/46,XY Karyotype

Journal Name:

  • Fırat Tıp Dergisi

Publication Year:

  • 2004

Key Words:

Keywords (Original Language):

Author NameUniversity of AuthorFaculty of Author
Abstract (2. Language): 
The presence of mosaic 45,X/46,XY is a very rare chromosomal anomaly, with an incidence of about 1.5 per 10.000 in newborn infants and in midtrimester amniocentesis. The phenotype can vary from a normal male to a classical Ullrich-Turner syndrome (UTS). This patients are often infertile. The proposita presented at short stature, primary amenorrhea and hypoplasic uterus. Clinical examination revealed multiple Turner syndrome stigmata. Proposita karyotype was determined as 45,X/46,XY by cytogenetic analysis of peripheral blood. Fluorescence in situ hybridization (FISH) method was performed using centromeric X and Y probe to define the exact mosaicism rate. The rate of mosaicism is found as 45,X(%27)/46,XY(%73) by molecular cytogenetic evaluation. Sex determination was performed using pesudoautosomal region specific primers to establish definitely presence of Y chromosome. In this detection, the case revealed specific bands for Y and X chromosomes. It is impotant to determine definitely mosaicism rate, presence of Y chromosome and sex in UTS patients in terms of prognosis of the disease. It has been presented the importance of the presence Y chromosome in patients with UTS and genetic counseling process labaratory findings in this relatively rare seen case by discussing in view of the literature. ©2004, Fırat Üniversitesi, Tıp Fakültesi
Bookmark/Search this post with
Abstract (Original Language): 
45,X/46,XY mozaikliği nadir görülen kromozomal bir anomalidir. Her 10.000 yeni doğan bebekte ve ikinci trimester amniyosentezlerinde yaklaşık 15 oranında görülmektedir. Oluşan fenotip normal bir erkekten klasik Ullrich-Turner Sendromuna (UTS) kadar değişmektedir. Bu bireyler sıklıkla infertildir. Olgu kısa boy, primer amenore ve hipoplazik uterus göstermekteydi. Klinik muayene sonucunda bir çok Turner sendromu bulguları ortaya kondu. Probandın karyotipi, periferik kandan yapılan sitogenetik inceleme sonucu, 45,X/46,XY olarak saptandı. Mozaiklik oranının tam olarak belirlenmesi için sentromerik X ve Y probları kullanılarak Fluoresans in situ Hibridizasyon (FISH) yöntemi uygulandı. Mozaiklik oranı moleküler sitogenetik inceleme sonucu 45,X(%27)/46,XY(%73) olarak bulundu Y kromozomunun kesin varlığının ortaya konması için pseudootozomal bölgeye spesifik primerler kullanılarak cinsiyet tayini gerçekleştirildi. Bu incelemede, olgu X ve Y kromozomları için özgül bantlar gösterdi. UTS hastalarında bireyin cinsiyetinin, mozaiklik oranının ve Y kromozomuna ait dizilerin varlığının kesin olarak ortaya konması, hastalığın prognozunun belirlenmesi açısından oldukça önemlidir. UTS olgularında Y kromozom varlığının önemi ve nispeten nadir olarak görülen bu olguda laboratuar bulguları ile birlikte genetik danışmanlık süreci literatür ışığında tartışılarak sunulmuştur. ©2004, Fırat Üniversitesi, Tıp Fakültesi
FULL TEXT (PDF): 
PDF icon 46xy-karyotipine-sahip-ullrich-turner-sendromlu-bir-olgu.pdf
  • 3
96-98
  • Turkish

REFERENCES

References: 

1. Ranke MB, Saenger P. Turner's syndrome. The Lancet . 2001;
358: 309-314
2. Costa T, Lambert M, Teshima I, Ray PN, Richer CL, Dallaire L.
Monozygotic twins with 45,X/46,XY mosaicism discordant for phenotypic sex. Am J Med Gen 1998; 75: 40-44
3. Newberg MT, Francisco RG, Pang MG and et al. Cytogenetic of somatic cells and sperm from a 46,XY/45,X mosaic male with moderate oligoasthenoteratozoospermia. Fertil Steril 1998; 69:
146-148
4. Canto P, Chesnaye E, Lopez M and et al. A mutation in the 5' non-high mobility group box region of the SRY gene in patients with Turner Syndrome and Y mosaicism. The Journal of Clin Endocrinol Metab 2000; 85: 1908-1911
5. Ellis N, Taylor A, Bengtsson BO, Kidd J, Rogers J, Goodfellow P. Population structure of the human pseudoautosomal boundary.
Nature 1990; 344: 663-665
6. Held KR, Kerber S, Kaminsky E and et al. Mosaicism in 45,X Turner syndrome: does survival in early pregnancy depend on the presence of two sex chromosomes? Hum Genet 1992; 88:288-294
7. Medlej R, Lobaccaro JM, Berta P and et al. Screening for Y-derived sex determining gene SRY in 40 patients with Turner
syndrome. The J Clinical Endocrinol Metab 1992; 75:1289-92
8. Kocova M, Siegel SF, Wenger SL, Lee PA, Trucco M. Detection of Y chromosome sequences in Turner's syndrome by Southern blot analysis of amplified DNA. Lancet 1993; 17; 342:140-143
9. Cameron FJ, Sinclair AH. Mutations in SRY and SOX9: testis determining genes. Hum Mutat 1997; 9: 388-395
10. Verp MS, Simpson JL. Abnormal sexual differentiation and neoplasia. Cancer Genet Cytogenet 1987; 25: 191-218
11. Page DC. Hypothesis: a Y-chromosomal gene causes gonadoblastoma in dysgenetic gonads. Development 1987;
101:151-155
12. Lau YF, Lau HW, Komuves LG. Expression pattern of a gonadoblastoma candidate gene suggests a role of the Y chromosome in prostate cancer. Cytogenet Genome Res 2003; 101:250-260
13. Osipova GR, Karmanov ME, Kozlova SI, Evgrafov OV. PCR
detection of Y-specific sequences in patients with Ullrich-Turner Syndrome: Clinical Implications and Limitations. Am J Med
Genet 1998; 76: 283-287

Thank you for copying data from http://www.arastirmax.com