Prenatal detection of Xq deletion by abnormal noninvasive prenatal screening, subsequently diagnosed by amniocentesis: A case report

• 발행기관: 대한의학유전학회
• 저자명: Bo Ram Kim Rina Kim Angela Cho Hye Sim Kang Chul Min Park Sung Yob Kim Soon Sup Shim
• 간행물 정보: 『대한의학유전학회지』제18권 제2호, 117~120쪽, 전체 4쪽
• 주제분류: 의약학 > 기타의약학
• 파일형태: PDF
• 발행일자: 2021.12.31

영문 초록

We experienced a case of Xq deletion -- 46,X,del(X)(q22.3) -- detected by abnormal noninvasive prenatal screening, subse-quently diagnosed by amniocentesis. Genetic counseling was a challenge because there are few reports of prenatal diagnosis of Xq deletion. In each female cell, one X chromosome is inactivated at random early in development, and there may be a preferential inactivation of the abnormal X chromosome. But some proportions of genes escape inactivation. The most com-mon manifestation in women with Xq deletion is primary or secondary ovarian failure. Critical regions for ovarian function may be located at the long arm of the X chromosome. But, the onset and the severity of ovarian failure may vary with diverse, intricate factors. We anticipate that noninvasive prenatal screening can identify the broader range of chromosomal or genetic abnormalities with the advances in technology and analytic methods. We report our case with a brief review of the literature.

목차

Introduction

Case

Discussion

Authors’ Contributions

References

키워드

Xq deletion Prenatal diagnosis Noninvasive prenatal screening Amniocentesis