Tissue-specific mosaicism for trisomy 21 and congenital heart disease.
case_report · Level V
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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.
Medical subject headings
- Down Syndrome
- Ductus Arteriosus, Patent
- Heart Septal Defects, Ventricular
- Mosaicism