Tissue-specific mosaicism for trisomy 21 and congenital heart disease.

Yokoyama, Y; Narahara, K; Kamada, M; Tsuji, K; Seino, Y · J Pediatr · 1992

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.

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