Novel ring chromosome composed of X- and Y-derived material in a girl withmanifestations of Ullrich-Turner syndrome

We present a female infant who has a novel genetic variant of Ullrich-Turne r syndrome. Chromosome analysis on amniotic fluid cells obtained because of ultrasound observation of nuchal thickening showed 45,X in all cells. The infant was born with a low posterior hairline and moderate edema over hands and feet. Postnatal chromosome analysis demonstrated two cell lines-47% of the metaphases were 45,X, but 53% had a ring chromosome in addition to the normal X, FISH studies using alpha satellite probes, an X-whole-chromosome -paint (WCP) probe, and a Y-cocktail probe determined that the ring was com posed of both X and Y sequences. FISH studies also determined that the KAL locus was present on the ring, but that XIST was absent. PCR-based analysis of lymphocyte DNA documented that the ring contained sequences from both t he short and the long arm of the Y chromosome. X-chromosome analysis using a panel of highly polymorphic markers indicated that the ring contained mat erial derived only from Xp22.1 to Xp21.3, No Xq material was identified on the ring, and androgen receptor-based X-inactivation studies suggested that the intact X chromosome was not subject to random X inactivation. (C) 2000 Wiley-Liss, Inc.