Ullrich-turner syndrome (45,X/46,X,i[Xq]) in a child with a familial inversion of chromosome 3

We report a girl with shortness of stature and minor anomalies representing a mild form of the Ullrich-Turner syndrome. Cytogenetic studies showed 3 distinct anomalies: (1) a familial pericentric inversion, inv(3) (p25q21)pat, in all cells examined; (2) monosomy X (45,X) in 70% of cells; (3) isochromosome X (46,X,i(Xq)) in 30% of cells. The karyotype designation is: 45,X,inv(3) (p25q21)pat/46,X,i(Xq), inv(3) (p25q21)pat. The pedigree, which was originally interpreted as representing the segregation of a 2;3 translocation, is corrected and updated. Reproductive risks in families with pericentric inversions are discussed.