Clinical and Experimental Pediatrics

The Korean Pediatric Society (대한소아청소년과학회)
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A case of mosaic ring chromosome 13 syndrome

13번 환염색체의 모자이크 증후군

  • Kim, Soo Young (Department of Pediatrics, Chonnam National University Medical School) ;
  • Oh, Soo Min (Department of Pediatrics, Chonnam National University Medical School) ;
  • Kim, Mi Jeong (Department of Pediatrics, Chonnam National University Medical School) ;
  • Song, Eun Song (Department of Pediatrics, Chonnam National University Medical School) ;
  • Kim, Young Ok (Department of Pediatrics, Chonnam National University Medical School) ;
  • Choi, Young Youn (Department of Pediatrics, Chonnam National University Medical School) ;
  • Woo, Young Jong (Department of Pediatrics, Chonnam National University Medical School) ;
  • Hwang, Tai Ju (Department of Pediatrics, Chonnam National University Medical School)
  • 김수영 (전남대학교 의과대학 소아과학교실) ;
  • 오수민 (전남대학교 의과대학 소아과학교실) ;
  • 김미정 (전남대학교 의과대학 소아과학교실) ;
  • 송은송 (전남대학교 의과대학 소아과학교실) ;
  • 김영옥 (전남대학교 의과대학 소아과학교실) ;
  • 최영륜 (전남대학교 의과대학 소아과학교실) ;
  • 우영종 (전남대학교 의과대학 소아과학교실) ;
  • 황태주 (전남대학교 의과대학 소아과학교실)
  • Received : 2008.08.04
  • Accepted : 2008.11.11
  • Published : 2009.02.15
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Abstract

The clinical features of ring chromosome 13 include mental and growth retardation, CNS anomalies, facial dysmorphism, cardiac defects, genital malformations, limb anomalies, skeletal deformities and anal malformations. Although many cases of ring chromosome 13 have been reported worldwide, only 6 cases have been reported in Korea, and the latter cases were not mosaic but pure ring chromosome 13. Here we report a case with mosaic ring chromosome 13. The baby boy was born at 37 weeks of gestation by induced vaginal delivery due to intrauterine growth restriction (IUGR). He was the second baby of a 28-year-old hepatitis B carrier mother and a 32-year-old father. There was no family history of chromosomal anomalies. The baby was a symmetric IUGR with a birth weight of 1,860 g, length of 44.8 cm, and head circumference of 29.4 cm. The physical examination revealed microcephaly, trigonocephaly, flat occiput, large ears, short neck and dysmorphic facial features, including microophthalmia, hypertelorism, antimongoloid slanting palpebral fissures, a flat nasal bridge, and micrognathia. The karyotype of this patient performed by peripheral blood lymphocytes was 46,XY,r(13)(p13q34)/45,XY,-13/46,XY,dic r(13;13)(p13q34;p13q34). The baby showed failure to thrive, hypotonia, and developmental delay. We report the first case of mosaic ring chromosome 13 in a male baby in Korea and compare this case with other Korean cases of non-mosaic ring chromosome 13.

13번 환염색체 증후군은 정신발달의 지체, 성장 장애, 안면부 기형, 중추신경계 기형, 심장기형, 손발의 기형, 골격계 기형 및 항문기형의 특징을 가진다. 많은 수의 13번 환염색체 증후군에 대한 보고가 있었지만 국내에서는 오직 6예의 임상증례 고가 있다. 이들 보고는 모두 순수한 13번 환염색체 증후군을 보고한 것으로 본 저자들은 13번 환염색체 모자이크 현상의 증례를 경험하였다. 산전진찰 상 자궁내 발육지연이 의심되었던 남아에서 안면부기형이 관찰되었으나 이 외에 이학적 검사상 심장 기형, 골격계 및 외부 생식기 기형은 특별히 관찰되지 않았다. 시행한 세포 유전학 검사상 13번 염색체의 ring/monosomy/dicentric 모자이크 현상이 나타났다. 이후에도 근력저하, 성장과 발달지연을 보이고 있다. 저자들은 안면부 기형, 소두증과 대칭성 자궁내 발육지연을 보인 남아에서 13번 환염색체의 모자이크 증후군을 경험하여 기존에 보고된 다른 증례들과 임상 양상을 비교하여 보고하는 바이다.

Keywords

References

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