Yıl 2004,
Cilt: 17 Sayı: 2, 81 - 83, 29.06.2015
Öz
-
Anahtar Kelimeler
Kaynakça
- Samuel PY, Sanjay I, Bidichandia L, et al.
- Molecular analysis of deletion (17)(p11.2;p11.2)in
- a family segregating a 17p paracentric inversion:
- implications for carriers of paracentric inversions.
- Am J Hum Genet 1995; 60:1184-1193.
- Ligon AH, Beaudet AL, Shaffer LG. Simultaneous
- multilocus FISH analysis for detection of
- microdeletions in the diagnostic evaluation of
- developmental delay and mental retardation. Am J
- Hum Genet 1997; 61:51-59.
- Trask BJ, Mefford H, van den Engh G, et al.
- Quantification by flow cytometry of chromosome
- deletions in Smith-Magenis syndrome patients.
- Hum Genet 1966; 98:710-718.
- Seranski P, Heis NS, Dhorne-Pollet S, et al.
- Transcription mapping in a medulloblastoma
- breakpoint interval and Smith-Magenis syndrome
- candidate region: identification of p53
- transcriptional units and new candidate genes.
- Genomics 1999; 56:1-11.
- Seabright M. A rapid banding technique for human
- chromosomes. Lancet 1971; 2:971-972.
- Dutrillaux B, Viegas-Peguignot E. High resolution
- R and G banding on the same preparation. Hum
- Genet 1981; 57:93-95.
- Sumner AT. A simple technique for human
- demonstrating centromeric heterochromatin. Exp
- Cell Res 1972; 75:304-306.
- Acar H, Connor M J. Detection of trisomy 12 and
- centromeric alteration in CLL by interphase and
- metaphase FISH. Cancer Genet Cytogenet 1998;
- :148-151.
- Acar H, Stewart J Boyd, Connor MJ. Identification
- of variant translocations in chronic myeloid
- leukemia by FISH. Cancer Genet Cytogenet 1997;
- :115-118.
- Kuwano A, Ledbetter SA, Dobyns NB, Emanuel
- BS, Ledbetter DH. Detection of deletions and
- criptic translocations in Miller-Dieker syndrome by
- in situ hybridization. Am J Hum Genet 1991;
- :707-714.
- Juyal RC, Figuera LE, Hauge X, et al. Molecular
- analysis of 17p11.2 deletions in 62 Smith-Magenis
- syndrome patients. Am J Hum Genet 1996; 58:998-
- -
Yıl 2004,
Cilt: 17 Sayı: 2, 81 - 83, 29.06.2015
Öz
İleri anne yaşı ve üçlü testte 1/14 risk ile Down sendromu düşünülen gebeliğe 19. haftasında amniyosentez uygulandı. Fetusun kromozom analizi sonucu karyotipi 46,XX,inv (17) (p11.2;q25.1) olarak belirlendi. Sitogenetik olarak tespit edilen bu kromozomal kırık noktası mikrodelesyon sendromu olan Smith-Magenis sendromu ile ilişkili olabileceği için, Smith Magenis probu kullanılarak FISH yöntemi uygulandı. Delesyon olmadığı ve familyal inversiyon 17 olduğu tesbit edilerek gebeliğe devam edildi ve sağlıklı bir bebek doğdu. Bu bulguların ışığı altında, perisentrik inversiyon taşıyıcılarının prenatal genetik danışmasının önemli olabileceği dikkate alınmalıdır. Bu makalede, FISH yönteminin prenatal olarak inversiyon sonucu kromozom 17'de oluşabilecek mikrodelesyon ve yeniden düzenlenmelerin analizi açısından güvenilir olduğu vurgulanmaktadır.
Anahtar Kelimeler: Kromozom 17, Perisentrik inversiyon, Fluoresans in situ hibridizasyon
Anahtar Kelimeler
Kaynakça
- Samuel PY, Sanjay I, Bidichandia L, et al.
- Molecular analysis of deletion (17)(p11.2;p11.2)in
- a family segregating a 17p paracentric inversion:
- implications for carriers of paracentric inversions.
- Am J Hum Genet 1995; 60:1184-1193.
- Ligon AH, Beaudet AL, Shaffer LG. Simultaneous
- multilocus FISH analysis for detection of
- microdeletions in the diagnostic evaluation of
- developmental delay and mental retardation. Am J
- Hum Genet 1997; 61:51-59.
- Trask BJ, Mefford H, van den Engh G, et al.
- Quantification by flow cytometry of chromosome
- deletions in Smith-Magenis syndrome patients.
- Hum Genet 1966; 98:710-718.
- Seranski P, Heis NS, Dhorne-Pollet S, et al.
- Transcription mapping in a medulloblastoma
- breakpoint interval and Smith-Magenis syndrome
- candidate region: identification of p53
- transcriptional units and new candidate genes.
- Genomics 1999; 56:1-11.
- Seabright M. A rapid banding technique for human
- chromosomes. Lancet 1971; 2:971-972.
- Dutrillaux B, Viegas-Peguignot E. High resolution
- R and G banding on the same preparation. Hum
- Genet 1981; 57:93-95.
- Sumner AT. A simple technique for human
- demonstrating centromeric heterochromatin. Exp
- Cell Res 1972; 75:304-306.
- Acar H, Connor M J. Detection of trisomy 12 and
- centromeric alteration in CLL by interphase and
- metaphase FISH. Cancer Genet Cytogenet 1998;
- :148-151.
- Acar H, Stewart J Boyd, Connor MJ. Identification
- of variant translocations in chronic myeloid
- leukemia by FISH. Cancer Genet Cytogenet 1997;
- :115-118.
- Kuwano A, Ledbetter SA, Dobyns NB, Emanuel
- BS, Ledbetter DH. Detection of deletions and
- criptic translocations in Miller-Dieker syndrome by
- in situ hybridization. Am J Hum Genet 1991;
- :707-714.
- Juyal RC, Figuera LE, Hauge X, et al. Molecular
- analysis of 17p11.2 deletions in 62 Smith-Magenis
- syndrome patients. Am J Hum Genet 1996; 58:998-
- -
Toplam 45 adet kaynakça vardır.
Ayrıntılar
| Birincil Dil | Türkçe |
|---|---|
| Bölüm | Olgu Sunumu |
| Yazarlar | |
| Yayımlanma Tarihi | 29 Haziran 2015 |
| Yayımlandığı Sayı | Yıl 2004 Cilt: 17 Sayı: 2 |