Syndromes: Trisomy 13 (Patau syndrome)

A series about conditions with common symptoms that constitute syndromes

Trisomy 13 is also referred to as Patau syndrome after Klaus Patau, a cytogeneticist at the University of Wisconsin. In 1960, with his associates, Patau first recognised that this autosomal chromosomal condition resulted from having three copies of chromosome 13 instead of two copies (Patau et al 1961).

It is the third most common trisomy in live births (Hall et al 2007, Vendola et al 2010, Houlihan and O’Donoghue 2013) due to non-disjunction in the first meiotic division (Hall et al 2007) and can be full or partial trisomy (Robertsonian translocation) or mosaicism (Wu et al 2013). More than 91% of cases are maternal in origin with maternal age being identified as a risk factor for the syndrome (Staso et al 2018).

Most infants born alive with this syndrome