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Bir ailede kromozom 9qh+ segmentinin inversiyonu

Inversion of chromosome 9 qh+ segment in a family

Journal Name:

  • Selçuk Tıp Dergisi

Publication Year:

  • 2002

Key Words:

Keywords (Original Language):

Author NameUniversity of Author
Abstract (2. Language): 
Among human chromosomes, chromosome 9 shows the highest degree of morphological variation owing to the inversions of heterochromatic reglon . They are ciassified in a number of types because of the size of 9 qh region and İt's positional variation. Cytogenetic analyses of a family, who were referred to our iaboratory because of reproductive vvastage and having a mild mental retardated child, were done. İt was indicated that father had a duplicated heterochromatin segment vvhich was inverted to 9p region such a block [46,XY,inv(9)(p11q13)j, while mother's karyotype was normal. Parental origin of the inverted polimorphic region was detected by family studies. The cytogenetic importance of chromosome 9 variants were discussed under light of literatüre.
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Abstract (Original Language): 
Kromozomlar arasında heterokromatin bölgesinin inversiyonu bakımından en sık varyasyon göstereni kromozom 9'dur. 9qh bölgesinin büyüklüğünde ve pozisyonunda saptanan varyasyonlar çeşitli sınıflandırmaların yapılmasına neden olmuştur. Laboraiuvanmıza üreme kayıpları ve hafif mental retardasyonlu çocuğa sahip olma şikayetleri ile başvuran bir aile incelemeye alınarak sitogenetik analizleri yapıldı. Babada kromozom 9'un heterokromatik böl¬gesinde duplikasyon ve ayrıca perisentrik inversiyon [46,XY,inv(9)(p11q13)] saptandı, annenin karyotipi normal bulundu. Aile çalışmaları ile inversiyonlu polimorfik bölgenin parenta! orijini saptandı ve kromozom 9 varyantlarının sitogenetik önemi literatür ışığında gözden geçirildi.
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REFERENCES

References: 

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