Mosaic monosomy 21 syndrome

Chiou Nan Shiue, Ying Hui Lin, Wen Hui Tsai, Yen Yin Chou, Shang Chun Tsai, Pao Lin Kuo, Shio Jean Lin

研究成果: Article

摘要

Monosomy 21 is extremely rare in live-born infants. Although monosomy 21 mosaicism may be present in living individuals, the incidence is also low. Previously, 12 cases that were at first diagnosed as monosomy were reexamined and were reclassified as unbalanced translocations resulting in partial monosomy. In this report, we present a 15-month-old boy who suffered from growth retardation, psychomotor delay, and multiple anomalies, including microcephaly, a peculiar face, abnormal ears, and arthrogryposis. Chromosomal analysis demonstrated mosaicism of monosomy 21 in peripheral blood lymphocyte: 45,XY,-21 [7]/46,XY [93].

原文English
頁(從 - 到)337-340
頁數4
期刊Tzu Chi Medical Journal
15
發行號5
出版狀態Published - 2003 十月 1

All Science Journal Classification (ASJC) codes

  • Medicine(all)

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  • 引用此

    Shiue, C. N., Lin, Y. H., Tsai, W. H., Chou, Y. Y., Tsai, S. C., Kuo, P. L., & Lin, S. J. (2003). Mosaic monosomy 21 syndrome. Tzu Chi Medical Journal, 15(5), 337-340.