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De novo 46,XY,t(13;20)(q22;p13) karyotipi ve konjenital sağırlığı olan bir olgu

A case who has de novo 46,XY,t(13;20)(q22;p13) karyotype and congenital deafness

Journal Name:

  • Selçuk Tıp Dergisi

Publication Year:

  • 2002

Key Words:

Keywords (Original Language):

Author NameUniversity of Author
Abstract (2. Language): 
De novo 46;XY,t(13;20)(q22;p13) karyotype was detected in a 27 year old congenital deafness case who was referred to our laboratory because of reproductive vvastage. Effect of gamets with unbalanced karyotypes which dependent on discussed balanced reciprocal translocation on reproductive vvastage and probable relationship betvveen this balanced reciprocal translocation and congenital deafness were evaluated considering the compari-son with literatüre.
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Abstract (Original Language): 
Konjenital sağırlığı olan ve üreme kayıpları şikayetiyle laboratuvarımıza başvuran 27 yaşındaki bir olguda de novo 46,XY,t(13;20)(q22;p13) karyotipi saptandı. Söz konusu de novo dengeli resiprokal translokasyona bağlı olarak oluşabilecek dengesiz karyotipli gametlerin üreme kayıplarına olan katkısı ve bu de novo dengeli resiprokal translokasyon ile konjenital sağırlık arasındaki muhtemel ilişki literatür ışığında gözden geçirildi.
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  • 4
253-255
  • Turkish

REFERENCES

References: 

1- Connor M. Ferguson-Smith M. Medical Genetics London: 5th ed. Blackwe!l Science; 1997: p. 55-68.
2- Sato H. Takaya R, Nihira S, Fujita H. Familial mental retardation associated with balanced chromosome rearrangement rcp t(8:11)(q24.3;p15.1). J Med Genet 1989;26:642-63.
3- Durakbaşı G. Zamanı AG: Acar A: Kutlu R. Maternal inv 9:a ilave olarak de novo t(4:22) taşıyan bir olgu.S.Ü. Tıp Fak Derg 2001; 17: 243-6.
4- Badalian LO, Malygina NA, Gozman TV, Petrukhin AS, Mutovin GR. Phenotypic disorders in balanced recipro¬cal translocation: karyotype 46. XY, rcp(13;21)(q22:q22). Tsito! Genet 1982: 16:17-21.
5- vVotlnik B. Biology and genetics of non-syndromic hear-ing loss. 7. Ulusal Biyoloji Kongresi Kitabı: 18-21 Eylül 2001; Eskişehir, Türkiye, p.31.
6- Felix Mitelman. ISCN: An international system for human cytogenetic nomenclature, Basel .Karger; 1995.
7- Die-Smulders CE, Engelen JJ, Albrechts JC, Hamers GJ. Detection of a cryptic translocation t (13;20) in an unexplained case of MCA/MR: value of FISH över high resolution banding. Am J Med Genet 1999: 86: 385-8.

8- Schinzel A. Trisomy 20pter -to q11 in a malformed boy from a t (13:20)(p11 ;q11) translocation- carrier mother. Hum Genet 1980; 53: 169-72.
9- Castoria P, Rodeschini G. Nocera G, Larizza L. Reproductive follow-up of carriers of familial reciprocal balanced translocations involving chromosome 9 and comparison with predicted outcome. Genetic Counseling 2000;11 (3):229-9.
10- Başaran N. Tıbbi Genetik. 6. Basım Eskişehir: Bilim Teknik Yayınevi 1 996: p.77-99.
11 - Demîrel S, Kaplanoglu N. Acar A, Bodur S. Paydak F. The frequency of consanguinity in Konya. Turkey, and its medical effects. Genetic counselling 1997; 8: 295-301.
12- Abramowicz M.J.. Albuqerque-Silva J., Zanen A. Corneal dystrophy and perceptive deafness (Harboyan syndrome): CDPD 1 maps to 20p13. J Med Genet 2002; 39: 110-2
13- Ayter Ş. İnsan genom projesi sonrası gelişmeler ve beklentilerimiz. 7. Ulusal Tıbbi biyoloji Kongresi Kitabı: 18-21 Eylül 2001; EskişehirTürkiye. p.25.

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