Challenges in Interpretation of Ambiguous Karyotype Results
محل انتشار: ششمین سمینار یکروزه ژنتیک پزشکی تشخیصی- تحقیقی
سال انتشار: 1398
نوع سند: مقاله کنفرانسی
زبان: انگلیسی
مشاهده: 460
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شناسه ملی سند علمی:
GMED06_006
تاریخ نمایه سازی: 22 مهر 1398
چکیده 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
نویسندگان
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