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Prenatal Diagnosis of Xeroderma Pigmentosum

  • Shinichi MoriwakiEmail author
Chapter

Abstract

Xeroderma pigmentosum (XP) is an autosomal recessively transmitted, intractable photosensitive disorder with deficient post-ultraviolet (UV) DNA repair. Patients with XP are highly predisposed to skin cancers on sun-exposed areas. Approximately 30% of XP patients develop progressive neurological abnormalities, although the cause of these changes is unknown.

Keywords

Amniocentesis Genetic counseling Prenatal diagnosis Xeroderma pigmentosum group A 

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Copyright information

© Springer Nature Singapore Pte Ltd. 2019

Authors and Affiliations

  1. 1.Department of DermatologyOsaka Medical CollegeTakatsukiJapan

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