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Case Report

부계 완간역위에서 유래한 11pter 중복과 11qter 결실로 발생한 Beckwith-Wiedemann 증후군과 Jacobsen 증후군 1예

Beckwith-Wiedemann Syndrome and Jacobsen Syndrome Caused by 11pter Duplication and 11qter Deletion Inherited from Paternal Pericentric Inversion

최원규1·임성은2·김구환2·이범희2,3·설창안1,2·서을주1,2

1울산의대 서울아산병원 진단검사의학과
2서울아산병원 의학유전학센터
3울산의대 서울아산병원 소아청소년과

1Department of Laboratory Medicine, University of Ulsan College of Medicine and Asan Medical Center, Seoul, Korea
2Medical Genetics Center, Asan Medical Center, Seoul, Korea
3Department of Pediatrics, University of Ulsan College of Medicine and Asan Medical Center Children’s Hospital, Seoul, Korea

Correspondence to:
Eul-Ju Seo, M.D., Ph.D.
https://orcid.org/0000-0002-8247-3746
Department of Laboratory Medicine, Asan Medical Center and University of Ulsan College of Medicine, 88 Olympic-ro 43-gil, Songpa-gu, Seoul 05505, Korea
Tel: +82-2-3010-4507, Fax: +82-2-478-0884, E-mail: ejseo@amc.seoul.kr
Received: September 20, 2019; Revised: November 7, 2019; Accepted: November 7, 2019

Lab Med Online 2020; 10(3): 255-261

Published July 1, 2020 https://doi.org/10.3343/lmo.2020.10.3.255

Copyright © The Korean Society for Laboratory Medicine.

Abstract

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저자들은 아버지의 inv(11)(p15.1q24.2)로 기인한 11pter 삼염색체(trisomy)와 11qter 단일염색체(monosomy)로 인해 Beckwith-Wiedemann 증후군(BWS)과 Jacobsen 증후군(JBS)을 함께 가진 환아를 보고하고자 한다. 본 환아는 미숙아로 태어나 안면 이형, 심장기형, 혈소판감소증을 비롯한 다양한 임상 증상을 가지고 있었다. 염색체검사에서 핵형이 46,XX,rec(11)dup(11p)inv(11)(p15. 1q24.2)pat이었으며 메틸화 특이-multiplex ligation-dependent probe amplication 검사에서 11p15.5 부위의 중복과 imprinting center 1의 과메틸화를 확인했다. 염색체 마이크로어레이검사에서 11pter-p14.3의 23.8 Mb의 중복과 11q23.3-qter의 13.8 Mb의 결실을 확인하여 각각 BWS와 JBS를 진단할 수 있었다. 부계의 완간역위에서 유래한 uniparental disomy로 인해 11p15.5 부위의 중복과 11q23.3 부위의 결실이 동시에 생길 수 있기 때문에, 환자의 정확한 유전학적 진단을 위해 염색체검사와 더불어 MLPA, 마이크로어레이검사 등과 같은 유전학적 검사가 필요하다.
We report a case of Beckwith-Wiedemann syndrome (BWS) and Jacobsen syndrome (JBS) due to 11pter trisomy and 11qter monosomy caused by paternal inv(11)(p15.1q24.2). The patient was born premature and had a variety of clinical features including characteristic facial dysmorphism, cardiac abnormalities, and thrombocytopenia. The karyotype was described as 46,XX,rec(11)dup(11p)inv(11)(p15.1q24.2)pat and methylation-specific multiplex ligation-dependent probe amplification analysis showed duplication of the 11p15.5 region and hypermethylation of imprinting center 1. Chromosomal microarray analysis demonstrated 23.8 Mb duplication on 11pter-p14.3 and 13.8 Mb deletion on 11q23.3-qter. These results were consistent with BWS and JBS, respectively. Because uniparental disomy inherited from paternal pericentric inversion results in simultaneous 11p15.5 duplication and 11q23.3 deletion, appropriate genetic tests are necessary for accurate genetic diagnosis of patients.

Keywords

Beckwith-Wiedemann syndrome, Jacobsen syndrome, Pericentric inversion, 11pter duplication, 11qter deletion, Chromosomal microarray

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