Year 2005,
Volume: 6 Issue: 1, 57 - 58, 01.04.2005
Abstract
Keywords
References
- Schinzel A. Catalogue of Unbalanced Chromosome Aberrations in Man. Berlin: de Grutyer; 1983; 407— 409.
- Chen CP, Shih JC, Lee CC, et al. Prenatal Diagnosis of a Fetus With Distal 10q Trisomy. Prenat Diagn, 1999; 19: 876—878.
- Davies J, Jaffe A, Bush A. Distal 10q trisomy syndrome With unusual cardiac and pulmonary abnormalities. J Med Genet, 1998; 35:72-74.
- Hou JW. Chromosomal 10q26 trisomy resulting from paternal t(9;10)(pter;q26.1). J Formos Med Assoc, 2003; 102:887-892.
- Coonen E, Martini E, Dumoulin JC, et al. Preimplantation genetic diagnosis of a reciprocal translocation t(3;11)(q27.3;q24.3) in siblings. M01 Hum Reprod, 2000; 6: 199-206.
- Schinzel A. Human Cytogenetics Database. Oxford: Oxford University Press, 1994.
- Mitsufuji N, Tokuda S, Nakanoin H, et al. Partial 10q trisomy With partial 12q monosomy. Arc Dis Child, 1997; 77:528—529.
- Akahoshi K, Moriwaki SI, Kimiya S, et al. Woman With UV Hypersensitivity and a De Novo Unbalanced Chromosome Translocation. Am J Med Genet, 2001; 101:153-157.
- Suresh S, Suresh I, Lakshminarayana P, et al. Partial trisomy of chromosome 10 inherited from a carrier father. Indian J Pediatr, 1995; 62:615-618.
- estimates for balanced reciprocal translocation carriers—prenatal diagnosis experience. Clin Genet, 1996; 49: 145-151.
- arm reciprocal translocations: a de novo case and literature review. Am J Med Genet, 1995; 55: 423- 426.
Year 2005,
Volume: 6 Issue: 1, 57 - 58, 01.04.2005
Abstract
Hasta, yapılan “triple test“ sonrasında artmış trizomi 21 riski nedeniyle Gazi Üniversitesi Tıp Fakültesi, Tıbbi Genetik Anabilim Dalı'na amniosentez yapılmak üzere refere edildi. Birinci kuzen akraba evliliği olan çiftin reprodüktif öykülerinde, 3 kez ilk trimestır abortus öyküsü bulunmaktaydı. Hastanın amnion kültürü sonrasında, fetüste distal trizomi 10q saptandı; 46,XX,der(9)t(9;10)(p24;q25)mat. Aileye daha sağlıklı bir genetik danışma verilebilmesi için ebeveyn kromozom analizi sonucunda, annenin dengeli translokasyon taşıyıcısı [46,XX,der(9)t(9;10)(p24;q25)] olduğu saptandı. Bu olgu, kötü obstetrik öyküsü ya da tekrarlayan ilk trimestır düşük öyküsü olan gebelerde prenatal tanı uygulamalarının önem ve değerini göstermektedir
Keywords
References
- Schinzel A. Catalogue of Unbalanced Chromosome Aberrations in Man. Berlin: de Grutyer; 1983; 407— 409.
- Chen CP, Shih JC, Lee CC, et al. Prenatal Diagnosis of a Fetus With Distal 10q Trisomy. Prenat Diagn, 1999; 19: 876—878.
- Davies J, Jaffe A, Bush A. Distal 10q trisomy syndrome With unusual cardiac and pulmonary abnormalities. J Med Genet, 1998; 35:72-74.
- Hou JW. Chromosomal 10q26 trisomy resulting from paternal t(9;10)(pter;q26.1). J Formos Med Assoc, 2003; 102:887-892.
- Coonen E, Martini E, Dumoulin JC, et al. Preimplantation genetic diagnosis of a reciprocal translocation t(3;11)(q27.3;q24.3) in siblings. M01 Hum Reprod, 2000; 6: 199-206.
- Schinzel A. Human Cytogenetics Database. Oxford: Oxford University Press, 1994.
- Mitsufuji N, Tokuda S, Nakanoin H, et al. Partial 10q trisomy With partial 12q monosomy. Arc Dis Child, 1997; 77:528—529.
- Akahoshi K, Moriwaki SI, Kimiya S, et al. Woman With UV Hypersensitivity and a De Novo Unbalanced Chromosome Translocation. Am J Med Genet, 2001; 101:153-157.
- Suresh S, Suresh I, Lakshminarayana P, et al. Partial trisomy of chromosome 10 inherited from a carrier father. Indian J Pediatr, 1995; 62:615-618.
- estimates for balanced reciprocal translocation carriers—prenatal diagnosis experience. Clin Genet, 1996; 49: 145-151.
- arm reciprocal translocations: a de novo case and literature review. Am J Med Genet, 1995; 55: 423- 426.
There are 11 citations in total.
Details
| Primary Language | Turkish |
|---|---|
| Journal Section | Articles |
| Authors | |
| Publication Date | April 1, 2005 |
| Published in Issue | Year 2005 Volume: 6 Issue: 1 |