Mutation-genetic disease paradigm: a bewitching picture without a frame

The world of human genetics is wonderfully complex. Next-generation sequencing technologies implemented in genetic testing for rare disorders are impressive tools for searching throughout the whole human genome and singling out mutations causing mendelian diseases. However, although mendelian inheritance may look simple, its mechanisms is usually tangled in a wide range of biological phenomena that […]

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Unraveling uniparental disomy

Normally, every human has 23 pairs of chromosomes (called homologous chromosomes), in each of which one chromosome is inherited from the father and the other from the mother. Uniparental disomy (UPD) is an abnormal condition in which both copies of a chromosome (or a part of it) come from the same parent, without the contribution […]

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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 […]

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