title: Three cases of trisomy 13 mosaicism and a review of the literature.
abstract: We describe three cases of trisomy 13 mosaicism and review the literature. The phenotype ranges from a severe form similar to Patau syndrome, through to physical and mental normality. This range presumably reflects the proportion and tissue distribution of the trisomic cell line. The percentage of trisomic cells in lymphocytes correlates poorly with the observed phenotype.
authors.affiliation: Victorian Clinical Genetics Services, Royal Children's Hospital, Melbourne, Australia.
authors.forename: M
authors.initials: M
authors.lastname: Delatycki
authors.forename: R J
authors.initials: RJ
authors.lastname: Gardner
mesh_terms: D000328:Adult; D000649:Amniocentesis; D001835:Body Weight / Q000235:genetics; D002648:Child; D002675:Child, Preschool; D002882:Chromosomes, Human, Pair 13; D002658:Developmental Disabilities / Q000235:genetics; D004374:Ductus Arteriosus, Patent / Q000235:genetics / Q000601:surgery; D005124:Eye Abnormalities / Q000235:genetics; D005260:Female; D006801:Humans; D007223:Infant; D008607:Intellectual Disability / Q000235:genetics; D008297:Male; D009030:Mosaicism; D011247:Pregnancy; D014314:Trisomy