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JÜVENİL GLOKOMLU BİR HASTANIN AİLE AĞACININ İNCELENMESİ

The pedigree of a patient with juvenile glaucoma

Journal Name:

  • İnönü Üniversitesi Tıp Fakültesi Dergisi

Publication Year:

  • 1999

Key Words:

Keywords (Original Language):

Author NameUniversity of AuthorFaculty of Author
Abstract (2. Language): 
Purpose: The pedigree of nine year old patient diagnosed with juvenle glaucoma has been evaluated. Materials and Methods: The pedigree of seven members (close relatives of probands from three generations) was investigated and then ciinical examinations were performed. Their blood samples were analysed for chromosomes. Results: From this pedigree, it was found that, two cases had juvenle gaaucoma, two cases had primary open angle glaucoma and two cases were suspected to have juvenle glaucoma. There was no significant abnormaiity in investigated chromosomes. Conclusions: In conclusion, members of the family were thouht to have the same genotypic defect were exposed to various phenotypic characters.
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Abstract (Original Language): 
Amaç: Dokuz yaşında jüvenil glokomlu bir olgunun aile ağacı gözden geçirilmiştir. Yöntem: JüvenH glokomlu olgunun birinci derece yakınlarını içeren üç jenerasyona ait yedi kişi lle llgiii ale öyküsü alınmış ve tüm olgulara ayrıntılı bir oftalmolojik muayene yapılmıştır. Bu olguaardan periferik kan ahnarak kromozom incelemesi yapılmıştır. Bulgular: JüvenH glokomlu olgunun kendisi (proband), brr dayı ve teyzesinde jüvenH glokom, anne ve büyükbabasında primer açık açılı glokom (PAAG), bir dayı ve teyzesinde ise şüpheii jüvenH glokom saptanmıştır. Kromozom incelemesinde bir patoloji beiirlenememiştir. Sonuç: JüvenH glokom olgusuna ait alle ağacında, alle bireylerinin bir kısmında jüvenH glokom, brr kısmında PAAG brriikteiiği ve brr kısmında göz içi basıncı normal olan gonyodisgenezis olguları saptanmıştır. Aynı alle ağacında ortak genetik def ekte bağı olduğu düşünülen, ancak farkı fenotipik özelikler gösteren brreylernn varhğı dikkat çekmektedir.
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  • 4
333-336
  • Turkish

REFERENCES

References: 

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