Prenatal diagnosis and prenatal imaging of a de novo 46,X,der(Y)t(X;Y)(p22.13;q11.23) leading to functional disomy for the distal end of the X chromosome short arm from Xp22.13 in a phenotypically male fetus with posterior fossa abnormalities.
D000028:Abortion, Induced; D002892:Chromosomes, Human, Pair 22; D041321:Chromosomes, Human, X; D041322:Chromosomes, Human, Y; D005260:Female; D005817:Genetic Counseling; D006352:Heart Ventricles / Q000002:abnormalities / Q000196:embryology; D006801:Humans; D007621:Karyotyping; D008279:Magnetic Resonance Imaging; D008297:Male; D011247:Pregnancy; D011262:Pregnancy Trimester, Second; D011296:Prenatal Diagnosis; D017384:Sequence Deletion; D012729:Sex Chromosome Aberrations / Q000196:embryology; D024182:Uniparental Disomy / Q000235:genetics*