Case report of individual with cutaneous immunodeficiency and novel 1p36 duplication

Conclusion: To our knowledge, the specific duplicated sequence between 1p36.11 and p36.21 found in our patient has never been previously reported. We reviewed and compared the clinical, genotyping, and gene microarray results of our patient in order to characterize this novel 1p36 duplication syndrome, which might have contributed to the recurrent scabies infection in this patient.Keywords: immunodeficiency, crusted scabies, cutaneous immunodeficiency, 1p36 duplication
Source: Application of Clinical Genetics - Category: Genetics & Stem Cells Tags: The Application of Clinical Genetics Source Type: research