| 5 | 1例嵌合型16三体患者的皮肤表现显示文摘We present a 48-year-old man with unilateral dermatological manifestations including hypertrichosis, telangiectasia, hyperkeratosis and hyperpigmentation. Additional findings included skeletal abnormalities and left-sided hearing loss. Skin biopsies showed changes characteristic of porokeratosis. Fibroblast karyotyping from affected skin demonstrated trisomy 16 mosaicism, in contrast to the normal karyotype in unaffected skin and blood lymphocytes. The possible role of trisomy 16 in porokeratosis is discussed. | Ousager L.B. Brandrup F. Brasch-Andersen C. Erlendsson A. 王琼 | 2006 | 世界核心医学期刊文摘(皮肤病学分册)2006，2，6： | 0 |
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