Start-loss mutations in rare diseases
Mutations are inheritable changes in the DNA sequence. Mutations can be of different size and may affect a single gene (genic mutations), one or more chromosomes in their structure (chromosomal aberrations), or one or more chromosomes in number (genomic aneuploidies). Genic mutations involve one or few single nucleotides. So they can be consistent with point […]Continue reading
Unraveling uniparental disomy
Normally, every human has 22 pairs of chromosomes (called homologous chromosomes or homologs or autosomes) plus one couple of sexual chromosomes (which are two X chromosomes in females and one chromosome X plus one chromosome Y in males). For normal development, we need that, for each pair of autosomes, one is inherited from the mother […]Continue reading
Robertsonian translocations: what to do?
A Robertsonian translocation is a chromosomal rearrangment involving two acrocentric chromosomes. Robertsonian translocations are actually the most frequent chromosomal rearrangment in humans, showing an incidence of 1 in 1,000. A difference between Robertsonian translocations and balanced translocations is in that people with a Robertsonian translocation has 45 chromosomes instead of 46. The translocation takes place […]Continue reading