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  • Title: Ullrich-Turner syndrome (45,X/46,X,i[Xq]) in a child with a familial inversion of chromosome 3.
    Author: Stine SB, Clark CE, Telfer MA, Casey PA, Cowell HR.
    Journal: Am J Med Genet; 1982 May; 12(1):57-62. PubMed ID: 7091197.
    Abstract:
    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.
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