Two further triple-X/rea(X) females in an inv(X)(p22q22) family

Recently two reports published in this journal described the exceptional concurrence of triple-X aneuploidy with a rearranged X chromosome, namely a maternal Xq+ transmitted to two 47,XX,add(X)(q26) sisters (Ramachandram et al. 2013) and a de novo Xp deletion in a 47,XX,del(X)(p21) patient (Malla et al. 2014). In addition, two sporadic and unrelated 45,X/46,X,rea(X)/47,X,rea(X),rea(X) females are also known (Daly et al. 1977; Reinehr et al. 2001). These observations prompt us to describe here a comparable concurrence in a family with an inv(X)(p22q22) that was rst diagnosed in a 14-year-old girl with a height of 135 cm (