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Antenatal diagnosis of 45,X/48,XYYY
C R Bryke1, M J Mahoney, T L Yang-Feng
1Yale University School of Medicine, Department of Human Genetics, New Haven, Connecticut 06510.
American Journal of Medical Genetics
|October 1, 1989
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.