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
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초록
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.
Abstract
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.
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