Antenatal diagnosis of 45,X/48,XYYY

Abstract

A diagnosis of 45,X/48,XYYY was made antenatally. Counseling this case was hampered by the paucity of literature describing the phenotype of patients with this chromosome constitution. The fetus had ambiguous external genitalia, a horseshoe kidney, a cerebral cortical cyst and arachnodactyly.

48,XYYY: A Rare Case Report

“…The XYYY pattern is mostly observed with a mosaic pattern of XYY, XY and/or X, [6][7][8][9][10][11][12][13][14][15][16][17][18] and can also be seen as a single clone. Out of 15 cases, a mosaic pattern is seen in 7 cases, and pure XYYY is seen in 8 cases (Tables 1 and 2).…”

Y chromosomal polysomy: A unique case of 49,XYYYY in amniotic fluid cells

“…The only brain anomalies diagnosed so far were dilated lateral ventricles and cortical atrophy [Shanske et al, 1998]. A unilateral porencephalic cerebral cortical cyst was reported, however, in a fetus after prenatal diagnosis of 45,X/48,XYYY mosaicism and termination of pregnancy at 20 weeks gestation [Bryke et al, 1989]. Neither the facial anomalies nor the skeletal changes in the patients listed in Table I appear to be specific.…”