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Challenges in Interpretation of Ambiguous Karyotype Results

عنوان مقاله: Challenges in Interpretation of Ambiguous Karyotype Results
شناسه ملی مقاله: GMED06_006
منتشر شده در ششمین سمینار یکروزه ژنتیک پزشکی تشخیصی- تحقیقی در سال 1398
مشخصات نویسندگان مقاله:

Farkhondeh Behjati - Sarem Fertility and Infertility Research Centre & Medical Genetics Department, Sarem Hospital, Tehran, Iran- Genetics Research Center, University of Social Welfare & rehabilitation Sciences, Tehran, Iran
Atefeh Dokhanchi - Sarem Fertility and Infertility Research Centre & Medical Genetics Department, Sarem Hospital, Tehran, Iran
Iman Begherizadeh - Sarem Fertility and Infertility Research Centre & Medical Genetics Department, Sarem Hospital, Tehran, Iran
Akram Abdi - Sarem Fertility and Infertility Research Centre & Medical Genetics Department, Sarem Hospital, Tehran, Iran

خلاصه مقاله:
Karyotype findings in both prenatal and post-natal Cytogenetics sometimes are not clear cut and require further complementary tests for correct interpretation. However, wrong interpretation of karyotype findings can have grave consequences for the patients. In this presentation, several Cytogenetics cases, both post-natal and prenatal, with challenging results are presented and discussed. The categories of presentation are as follows: A- Patients with infertility and sub-fertility referrals with low level mosaicism of sex chromosome aneuploidy B- Patients with inverted or satellited Y chromosome C- Patients with polymorphism of chromosomes: inv(9); large or small heterochromatin in chromosomes 1,9,16,Y; Satellite and NOR variability in acrocentric chromosomes

صفحه اختصاصی مقاله و دریافت فایل کامل: https://civilica.com/doc/944268/