title: Full monosomy 21: a clinically recognizable syndrome?
abstract: A female newborn with multiple malformations and with full monosomy 21 is described. Clinical resemblance to the three cases described in the literature is striking.
mesh_terms: D000015:Abnormalities, Multiple / Q000235:genetics / Q000473:pathology; D001344:Autopsy; D002869:Chromosome Aberrations / Q000175:diagnosis* / Q000473:pathology; D025063:Chromosome Disorders; D002904:Chromosomes, Human, 21-22 and Y; D005260:Female; D006801:Humans; D007231:Infant, Newborn; D007621:Karyotyping; D013577:Syndrome