title: Tissue-specific mosaicism for trisomy 21 and congenital heart disease.
abstract: Cytogenetic studies in a girl with ventricular septal defect and mosaicism for trisomy 21 showed that trisomy was present in most cells from the myocardium and lung but in only a minority from the skin and lymphocytes. These findings emphasize the importance of tissue-specific mosaicism as a cause of certain cardiovascular diseases.
authors.affiliation: Department of Pediatrics, Okayama University Medical School, Japan.
authors.forename: Y
authors.initials: Y
authors.lastname: Yokoyama
authors.forename: K
authors.initials: K
authors.lastname: Narahara
authors.forename: M
authors.initials: M
authors.lastname: Kamada
authors.forename: K
authors.initials: K
authors.lastname: Tsuji
authors.forename: Y
authors.initials: Y
authors.lastname: Seino
mesh_terms: D002675:Child, Preschool; D002891:Chromosomes, Human, Pair 21; D003582:Cytogenetics; D004314:Down Syndrome / Q000235:genetics*; D004374:Ductus Arteriosus, Patent / Q000235:genetics*; D005260:Female; D006345:Heart Septal Defects, Ventricular / Q000235:genetics*; D006801:Humans; D007223:Infant; D007231:Infant, Newborn; D008168:Lung / Q000473:pathology; D009030:Mosaicism; D009206:Myocardium / Q000473:pathology; D011110:Polymorphism, Genetic / Q000235:genetics; D012867:Skin / Q000473:pathology