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CHROMOSOME ANALYSIS (KARYOTYPING) LabTest

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When pregnancy screening tests are abnormal; whenever signs of a chromosomal abnormality-associated disorder are present; as indicated to detect chromosomal abnormalities in a person and/or detect a specific abnormality in family members; sometimes when a person has leukemia, lymphoma, myeloma, myelodysplasia or another cancer and an acquired chromosome abnormality is suspected

14.3% of infertile males tested by karyotyping had abnormalities identified. These include: (258) 47,XXY and variants consistent with Klinefelter syndrome, (3) combined 47,XXY and balanced autosomal rearrangements, (9) 47,XYY, (9) Y-deletions, (7) 46,XX males, (32) balanced rearrangements, and (1) unbalanced rearrangement. 3.6% of males tested for Y-microdeletion analysis had abnormalities identified, 90% of which included a deletion of the AZFc region.

https://www.ncbi.nlm.nih.gov
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