Genome wide noninvasive prenatal testing detects microduplication of the distal end of chromosome 15 in a fetus: a case report.

Background: Noninvasive prenatal testing (NIPT) is the most recent modality widely used in prenatal diagnostics. Commercially available NIPT has high sensitivity and specificity for the common fetal chromosomal aneuploidies. As future advancements in NIPT sequencing technology are becoming promising and more reliable, the ability to detect beyond aneuploidies and to expand detection of submicroscopic genomic alterations, as well as single-gene disorders might become possible.

Erdheim-Chester Disease and Acute Myeloid Leukemia with Mutated in a Patient with Clonal Hematopoiesis: A Case Report.

Background: Erdheim-Chester Disease (ECD) is a clonal non-Langerhans histiocytosis, classified as a macrophage-dendritic cell neoplasm in the 2016 WHO classification. The exact cell of origin of ECD is unknown, although some limited evidence suggests that it arises from myeloid progenitors.

Case Presentation: A 43-year-old patient, diagnosed with mutated ECD, developed acute myeloid leukemia (AML) with wild-type , 15 months after the initial ECD diagnosis.

Correlation of the 4977 bp mitochondrial DNA deletion with human sperm dysfunction.

Background: Several studies have examined the association between mitochondrial DNA (mtDNA) deletions, in particular the "common" 4977-bp deletion, and human sperm dysfunction, but have produced contradictory results.

Findings: Here we show that PCR slippage and primer miss-match to nuclear DNA may lead to overestimates in the frequency of deletions. Our investigation resolves this issue and gives strong negative correlation between the proportion of the "common" deletion and sperm motility.