Am J Med Genet. 2001 Sep 1;102(4):342-5.

De novo deletion of chromosome 18q in a baby with harlequin ichthyosis.

Stewart H, Smith PT, Gaunt L, Moore L, Tarpey P, Andrew S, Dady I, Rifkin R, Clayton-Smith J.

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Department of Medical Genetics, Churchill Hospital, Old Road, Headington, Oxford, UK. helen.stewart@orh.nhs.uk

Abstract

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.

PMID:: 11503161; [PubMed - indexed for MEDLINE]

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