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

Research output: Contribution to journalArticlepeer-review


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].

Original languageEnglish
Pages (from-to)337-340
Number of pages4
JournalTzu Chi Medical Journal
Issue number5
Publication statusPublished - 2003 Oct 1

All Science Journal Classification (ASJC) codes

  • Medicine(all)


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