Purpose Approximately 1% of individuals who carry a balanced reciprocal translocation
(BRT) are subfertile. Current karyotyping does not have the resolution to determine whether …

Balanced reciprocal translocation carriers are usually phenotypically normal but are at an
increased risk of infertility, recurrent miscarriage or having affected children. Preimplantation …

Hearing loss (HL) is the most common sensory disorder, characterized by a wide range of
causes, including both environmental and genetic factors. While single-nucleotide variants …

Disease associated chromosomal rearrangements often have break points located within
disease causing genes or in their vicinity. The purpose of this study is to characterize a …

Background and aims: Certain chromosomal structural variations (SVs) in biological parents
can lead to recurrent spontaneous abortions (RSAs). Unequal crossing over during meiosis …

Balanced Translocations in Embryos Balanced chromosomal rearrangements are
associated with infertility and recurrent miscarriage but are difficult to detect. In this study …

Ca2+-dependent activator protein for secretion 2 (CAPS2) regulates dense-core vesicle
(DCV) exocytosis to facilitate peptidergic and catecholaminergic transmitter release. CAPS2 …

The majority of apparently balanced translocation (ABT) carriers are phenotypically normal.
However, several mechanisms were proposed to underlie phenotypes in affected ABT …

Background Preimplantation genetic testing (PGT) has already been applied in
chromosomally balanced translocation carriers to improve the clinical outcome of assisted …

Family studies have established that the heritability of blood pressure is significant and
genome-wide association studies (GWAS) have identified numerous susceptibility loci …