Stewart H, Smith P T, Gaunt L, Moore L, Tarpey P, Andrew S, Dady I, Rifkin R, Clayton-Smith J
Department of Medical Genetics, Churchill Hospital, Old Road, Headington, Oxford, UK.
Am J Med Genet. 2001 Sep 1;102(4):342-5. doi: 10.1002/ajmg.1506.
Harlequin ichthyosis, (MIM 242500), is a rare, autosomal recessive skin disorder due to an inborn error of epidermal keratinization. The gene for this condition has not been localized. We present a case of HI in which there was a de novo deletion of chromosome 18q: the karyotype was 46, XY, del(18)(q21.3). We postulate that the gene for HI may lie at, or distal to 18q21.3 and that the deletion observed in this case may have unmasked this autosomal recessive disorder.
丑角鱼鳞病（MIM 242500）是一种罕见的常染色体隐性皮肤疾病，由先天性表皮角化异常引起。该疾病的基因尚未定位。我们报告了一例丑角鱼鳞病患者，其18号染色体长臂发生了新发缺失：核型为46, XY, del(18)(q21.3)。我们推测，丑角鱼鳞病基因可能位于18q21.3或其远端，本病例中观察到的缺失可能使这种常染色体隐性疾病得以显现。
