摘要
單套第21染色體症在文獻報告是很少見的，而且此染色體異常對胎兒發育有致命的影響。以往單套第21染色體症的病例報告可能因細胞分子分析技術未盡完備，例如螢光染色體原位雜交分析，又傳統的細胞染色體檢查並不能辨識細小片段染色體的變異，導致細微的不平衡染色體轉位無法被觀察到。據研究文獻顯示，目前存活的單套第21染色體症病例，其實應該是由不平衡染色體轉位而形成的部分單套第21染體症，或者是在胚胎組織中存有正常染色體數細胞的的鑲崁型單套第21染色體。我們報告一個一歲三個月大的男嬰，外觀異常、短頸、四肢關節僵硬、發育遲緩；細胞染色體檢查顯示為鑲崁型單套第21染體，45,XY,-21[7]/46,XY,[93]。
並列摘要
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 monsosmy. 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].
延伸閱讀
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