We took advantage of overlapping interstitial deletions at chromosome 8p11–p12 in two
individuals with contiguous gene syndromes and defined an interval of roughly 540 kb …

Current protocols for DNA methylation analysis are either labor intensive or limited to the
measurement of only one or two CpG positions. Pyrosequencing is a real-time sequencing …

DNA methylation marks, a key modification of imprinting, are erased in primordial germ cells
and sex specifically re-established during gametogenesis. Abnormal epigenetic …

Chromosomal aberrations including structural variations (SVs) are a major cause of human
genetic diseases. Their detection in clinical routine still relies on standard cytogenetics …

Parental-specific epigenetic modifications are imprinted on a subset of genes in the
mammalian genome during germ cell maturation. However, the precise timing of their …

Erythropoiesis results from the proliferation and differentiation of pluripotent stem cells into
immature erythroid progenitors (ie, erythroid burst-forming units (BFU-Es), whose growth …

Abstract Chromosome 1p36 deletion syndrome (1p36DS) is one of the most common
terminal deletion syndromes (incidence between 1/5000 and 1/10,000 live births in the …

Background Balanced chromosomal rearrangements associated with abnormal phenotype
are rare events, but may be challenging for genetic counselling, since molecular …

Background The clinical significance of 16p13. 11 duplications remains controversial while
frequently detected in patients with developmental delay (DD), intellectual deficiency (ID) or …

Objective NIPT for fetal aneuploidy by digital PCR has been hampered by the large number
of PCR reactions needed to meet statistical requirements, preventing clinical application …