title: Prenatal identification of a Y-chromosome deletion by Y-specific single copy DNA probes.
abstract: A sex chromosome deletion was identified in the course of prenatal diagnosis for maternal age. Ultrasound pictures revealed male fetal sex and a comparison with the father's Y chromosome suggested that the altered chromosome might be a de novo deletion of the Y chromosome. DNA hybridization with five human Y-specific probes shows that, among the Y-specific sequences recognized by the probes, only two of them are absent. The normal infant, at birth, was mosaic 46, XYq-/46,XY.
mesh_terms: D000328:Adult; D000653:Amniotic Fluid / Q000032:analysis; D002872:Chromosome Deletion; D004247:DNA / Q000032:analysis; D005260:Female; D006801:Humans; D007231:Infant, Newborn; D007621:Karyotyping; D008297:Male; D011247:Pregnancy; D011296:Prenatal Diagnosis; D014998:Y Chromosome
chemical_list: D004247:DNA