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Maternal inv 9'a ilave olarak de novo t(4;22) taşıyan bir olgu

A Case with de novo t (4;22) in Addition to Maternal İnv 9

Journal Name:

  • Selçuk Tıp Dergisi

Publication Year:

  • 2001

Key Words:

Keywords (Original Language):

Author NameUniversity of Author
Abstract (2. Language): 
A 8- mounth- old gir! was referred to our laboratory because of Down Syndrome. She had had phenotypical features as mild mental retardation, flated nasal bridge, low- set and malformed ears. İn detailed family history her mother had had an carbon monoxide poisoning during proband's pregnancy and an abortus before her. Chromosome analysis was carried on peripheral blood lymphocytes culture, using standart technipues and chromosomes were identified by using GTG, C and NOR- banding. Her karyotype was found to be 46,XX,t (4q;22q), inv(9). Family studies were showed that neither her mother nor her father had carried this translocation but inv(9) was inherited from her mother to our patient. Our patient who seems as though a de novo balanced translocation carrier was discussed under the Hght of literatüre with her biochemical, radiologic and clinic features.
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Abstract (Original Language): 
Down Sendromu ön tanısı ile laboratuvarımıza gönderilen 8 aylık kız hastamızda mental retardasyon ile burun kökünün basık olması ve düşük- malforme kulakların da eşlik ettiği dismorfik yüz görünümü vardı. Alınan aile hikayesinde annenin daha önce bir düşüğünün olması ve hastamıza hamile iken 8. ayda geçirdiği karbon monoksit zehirlenmesi dışında önemli bir özellik yoktu. Yapılan sitogenetik analizde hastamızın kromozom kuruluşunun 46,XX,t(4;22),inv(9) olduğu görüldü. Aile çalışmalarında anne ve babanın bu translokasyonu taşımadığı, ancak inv(9)'un anneden kalıtıldığı tesbit edildi. Görünürde de nova dengeli translokasyon taşıyıcısı olan hastamızın biyokimyasal, radyolojik ve klinik bulguları literatür ışığında tartışıldı.
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  • 4
243-246
  • Turkish

REFERENCES

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