| A Case of Ring Chromosome 21 with Multiple Congenital Anomalies |
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Jun-Hwa Lee1, Eul-Ju Seo2 |
1Department of Pediatrics, College of Medicine, Ulsan University Hospital, Ulsan, Korea
2Department of Laboratory Medicine, University of Ulsan College of Medicine and Asan Medical Center, Seoul, Korea |
| 다발성 선천성 기형을 가진 21번 환(Ring) 염색체 1례 |
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이준화1, 서을주2 |
1울산대학교 의과대학 울산대학교병원 소아과
2서울아산병원 진단검사의학과 |
Correspondence:
Jun-Hwa Lee, Email: ljh3643@cataegu.ac.kr
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| Abstract |
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Ring chromosome 21 causes a multitude of phenotypes, ranging from severe abnormalities to normal. The proposed mechanism of ring formation, breakage of both short and long arms of a chromosome with subsequent end to end fusion, remains unproven. We encountered a 4-year-old boy who presented developmental delay, microcephaly, micrognathia, hypertelorism, low-set ears, mild optic nerve hypoplasia, cleft lip and palate, scoliosis and left foot valgus, but normal brain MRI. Chromosome study from peripheral blood showed 46,XY, r(21)(p11.2q22.1) karyotype. The authors report the first case of ring chromosome 21 in Korea with a review of the literature. |
| Key Words:
Ring chromosome 21, Developmental delay, Multiple congenital anomalies |
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