4p 아종말체의 결실을 동반한 모자익형 4번 환 염색체 1예 = A Case of Mosaic Ring Chromosome 4 with Subtelomeric 4p Deletion

국문 초록 (Abstract)

환 염색체는 염색체의 장완과 단완의 말단이 일부 소실되어
양쪽 끝끼리 붙어서 고리 형태를 형성하는 염색체의 구조적 이
상으로, 4번 염색체에서 발생하는 경우 Wolf-Hirschhorn 증후
군(WHS)을 보일 수 있다. 본 증례는 심한 저신장을 주소로 내원
한 생후 10개월 남아에서 4번 염색체의 모자익형을 보인 환아에
대한 보고이다. 환아는 -4 표준편차(SD)의 저신장, 경미한 갑상
샘 기능저하, 경한 심방중격결손 및 심실중격결손 그리고 경한
언어발달 지체 소견을 보였다. 뇌 자기공명영상 검사상 다병소
성 백색연화증 소견이 관찰되었다. 환아의 말초혈액을 이용한 염
색체 검사상 [46,XY,r(4)(p16q35)[84]/45,XY,-4[9]/91,XXYY,
dic r(4;4) (p16q35;p16q35)[5]/46,XY,dic r(4;4)(p16q35;p16-
q35)[2]]의 모자익형을 보였고, 환 염색체를 보인 4번 염색체의
말단 부위의 소실을 보기 위해 시행한 FISH 검사상 4q 아종말체
및 WHS 부위는 보존되었으나 4p 아종말체 부위가 소실된 소견
을 보였다. 환아의 부모 핵형은 정상 소견이었다. 본 환아의 증
례와 더불어 4번 환 염색체를 나타내어 단완의 소실 부위를 보인
증례를 문헌 고찰을 통해 비교해보았다. 본 증례는 4번 염색체
의 환 염색체 형성시 아종말체의 일부가 소실된 경우로 4번 염
색체 단완 말단의 소실은 저신장의 표현형과 연관성이 있을 것
으로 생각된다.

다국어 초록 (Multilingual Abstract)

Ring chromosome is a structural abnormality that is thought to be the result of fusion and breakage in the short and long arms of chromosome. Wolf-Hirschhorn syndrome (WHS) is a well-known congenital anomaly in the ring chromosome 4 with a partial deletion of the distal short arm. Here we
report a 10-month-old male of mosaic ring chromosome 4 with the chief complaint of severe short stature. He showed the height of -4 standard deviation, subtle hypothyroidism and mild atrial septal defect/ventricular septal defect, and also a mild language developmental delay was suspected. Brain
magnetic resonance imaging showed multifocal leukomalacia. Chromosomal analysis of the peripheral blood showed the mosaic karyotype with [46,XY,r(4)(p16q35)[84]/45,XY,-4[9]/91,XXYY, dic r(4;4)(p16q35;p16q35)[5]/46,XY,dic r(4;4)(p16q35;p16q35)[2]]. FISH study showed the deletion of
the 4p subtelomeric region with the intact 4q subtelomeric and WHS region. Both paternal and maternal karyotypes were normal. We compared the phenotypic variation with the previously reported cases of ring chromosome 4. The ring chromosome 4 with the subtelomeric deletion of short arm
seems to be related with the phenotype of short stature.

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