15q25.3-qter 부분삼염색체 1예
A Case of Partial Trisomy 15q25.3-qter
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15q25-qter 부분삼염색체는 매우 드문 염색체 이상으로 산 전 혹은 산후 과도성장, 장신, 대두증, 두개골조기유합증이 특 징적으로 알려져 있다. 15q26.3에 위치한 insulin-like growth factor 1 receptor (IGF1R) 유전자량 증가가 과도성장의 원인으 로 생각되고 있다. 저자들은 정신지체, 발달지연, 대두증, 길고 좁은 얼굴형, 안검하수, 높은 구개궁, 척추측만증, 측만지증과 과도성장을 보인 15q25.3-qter 부분삼염색체 1예를 보고한다. 환아는 염색체 검사에서 2번 염색체의 불균형전좌가 관찰되었고, BAC 클론을 이용한 aCGH 검사에서 2q37.3 영역의 2개 클론 결실과 함께 15q25.3-qter 영역의 31개 클론의 증가가 관찰되 었다. 또한 FISH 검사에서 2번 염색체의 추가염색질에서 IGF1R 유전자 시그널이 확인되었다. 환아는 de novo 46,XX,der(2)- t(2;15)(q37.3;25.3)로 진단되었고, 앞으로 적절한 유전상담, 주 기적인 성장 관찰이 필요하리라 사료된다.
Abstract
A 15q25-qter partial trisomy characterized by pre or postnatal overgrowth, tall stature, macrocephaly and craniosynostosis has rarely been reported. The cause of overgrowth has been thought to be the triplication of the insulin-like growth factor 1 receptor (IGF1R) gene located on the 15q26.3. We report a patient with partial trisomy 15q25.3-qter showing mental retardation, developmental delay, macrocephaly, long narrow face, ptosis, high palate arch, scoliosis, clinodactyly and overgrowth. Additional material located on terminal 2q was found in karyotyping analysis. In bacterial artificial chromosome (BAC) clone-based-array comparative genomic hybridization (aCGH) analysis, a gain of 31 clones on 15q25.3-qter and a loss of 2 clones on 2q37.3 were observed. An extra copy of IGF1R gene was observed on derivative chromosome 2 in FISH analysis. In conclusion, the patient was diagnosed to have de novo 46,XX,der(2)t(2;15)(q37.3;q25.3) chromosome complement. Adequate genetic counseling and regular follow-ups would be needed for the patient.
참고문헌 (14)
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