Tissue-specific mosaicism for trisomy 21 and congenital heart disease.
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.
Yokoyama
Y
Y
Department of Pediatrics, Okayama University Medical School, Japan.
Narahara
K
K
Kamada
M
M
Tsuji
K
K
Seino
Y
Y
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