Objective: To evaluate the frequency of azoospermia factor (AZFa) microdeletions among infertile men and establish a new high-throughput sequencing method to detect novel deletion types.
Materials And Methods: A total of 3731 infertile men were included. Karyotype analysis was performed using G-band staining of peripheral blood lymphocytes.
Purpose: We investigated the disagreement between the positive cell-free fetal DNA test for trisomy 13 and the standard cytogenetic diagnosis of one case.
Methods: Cell-free fetal DNA testing was performed by massively parallel sequencing. We used conventional cytogenetic analysis to confirm the commercial cell-free fetal DNA testing.
Purpose: To explore the prevalence and clinical features, especially the reproductive function, of 45,X mosaicism patients in northeast China.
Methods: GTG-banding was performed on a series of 2,250 patients from our genetic counseling clinic. Each of these patients underwent a physical examination and was interviewed about their medical history and reproductive problems.