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Langer–Giedion Syndrome with 8q23.1–q24.13 Deletion by Complex Three-way Translocation
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Type
Academic journal
Author
Journal
대한진단검사의학회 Laboratory Medicine Online Laboratory Medicine Online 제8권 제1호 KCI Accredited Journals
Published
2018.1
Pages
29 - 33 (5page)

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Langer–Giedion Syndrome with 8q23.1–q24.13 Deletion by Complex Three-way Translocation
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Langer–Giedion 증후군은 매우 드문 유전질환으로, TRPS1과EXT1 유전자를 포함하는 8q24.1 위치의 결실에 의해 발생하는 질환이다. 생후 5개월 된 여아가 양측 엄지의 측만지증과 약화로 내원하였다. 환아의 핵형은 46,XX,der(4)t(4;19)(q27;q11),der(8)t(4;8) (q27;q22.3),der(19)t(8;19)(q22.3;q11)del(8)(q23q24.1)이었으며, multiplex ligation-dependent probe ampli cation (MLPA) 분석에서rsa 8q24(P064)x1 및 rsa 8q24(P245)x1의 이형접합 결실을 보였다. Array comparative genomic hybridization (CGH) 분석 결과 8q23.1– q24.13에서 총 13.7 Mb에 걸친 3개의 중간 결실이 관찰되었다.아의 임상적 증상과 염색체분석, MLPA 및 array CGH의 결과에 따라 환아는 3방향복합전위를 동반한 산발성 Langer–Giedion 증후군으로 진단되었다. 본 증례는 Langer–Giedion 증후군에서 복잡한 염색체 재배열을 보이는 국내 첫 보고이다.

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