Challenges in Interpretation of Ambiguous Karyotype Results

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