A female patient with Xp21 gene deletion syndrome

• 발행기관: 대한의학유전학회
• 저자명: Jungeun Kim Hyunjoo Lee Ji-Hoon Na Young-Mock Lee
• 간행물 정보: 『대한의학유전학회지』제18권 제2호, 101~104쪽, 전체 4쪽
• 주제분류: 의약학 > 기타의약학
• 파일형태: PDF
• 발행일자: 2021.12.31

영문 초록

Xp21 contiguous gene deletion syndrome is associated with complex glycerol kinase deficiency, congenital adrenal hy-poplasia, Duchene muscular dystrophy, and intellectual disability. Xp21 gene deletion syndrome is X-linked recessive, so most symptomatic patients are male, and only a few female symptomatic patients have been reported. We report the first female Korean case of an Xp21 deletion. NGS data were analyzed for copy number variation, and the Xp21 deletion (chr X: 29301056-31838200) was confirmed using real-time PCR.

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Introduction

Case

Discussion

Authors’ Contributions

References

키워드

Xp21 contiguous gene deletion syndrome Duchenne muscular dystrophy Creatine kinase.