Clinical and Experimental Pediatrics

The Korean Pediatric Society (대한소아청소년과학회)
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A Case of Short Arm Deletion and Long Arm Duplication at Chromosome 3

3번 염색체 단완 결실과 장완 중복을 동반한 1례

  • Kong, Seung Hyun (Department of Pediatrics, Good Moonhwa Hospital) ;
  • Seo, Jeong Il (Department of Pediatrics, Good Moonhwa Hospital) ;
  • Kang, Jang Hui (Department of Pediatrics, Good Moonhwa Hospital) ;
  • Jung, So Young (Department of Laboratory Medicine, Good Moonhwa Hospital) ;
  • Mok, Ji Sun (Department of Pediatrics, Good Moonhwa Hospital)
  • 공승현 (좋은문화병원 소아과) ;
  • 서정일 (좋은문화병원 소아과) ;
  • 강장희 (좋은문화병원 소아과) ;
  • 정소영 (좋은문화병원 진단검사의학과) ;
  • 목지선 (좋은문화병원 소아과)
  • Received : 2005.07.06
  • Accepted : 2005.09.14
  • Published : 2005.12.15
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Abstract

The long arm duplication of chromosome 3 was reported for the first time in 1966 by Falek et al., and Hirschhorn et al. came to identify the duplication of 3q21${\rightarrow}$qter region in 1973. In most cases of duplication 3q syndrome patients, pure duplication of 3qter is believed to be rare and is often reported accompanied with deletion of another segment of the chromosome. Approximately 75 percent of parents of the patient in the meantime have been demonstrated to have unbalanced translocations or inversions of the chromosome. Partial deletion of the distal part of the short arm of chromosome 3 was first reported by Verjaal and De Nef in 1978 and terminal deletion of chromosome 3 (3p25-qter) has been observed in most cases. In karyotyping of chromosomes of immature infants showing the manifestations of flat occiputs, low set ears, hypertelorism, broad nasal roots, thin lips, web necks, hypotonia, hypertrichosis skin, cryptorchidism etc, we experienced a case diagnosed as 46,XY, rec(3)dup(3)(q21)del(3)(p25)inv(3)(p25q21).

저자들은 출생 시 납작한 후두골, 낮은 변형 귀, 양안 격리증, 넓고 낮은 콧등, 얇은 입술, 넓고 짧은 목의 덧살, 저긴장증, 피부의 다모증, 잠복고환 등의 소견을 보이는 미숙아의 염색체 핵형 분석에서 부모의 불균형 전도로부터 재조합된 염색체 이상의 결과로 인해 46,XY,rec(3)dup(3)(q21)del(3)(p25)inv(3)(p25q21)로 진단된 증례를 경험하였기에 문헌 고찰과 함께 보고하는 바이다.

Keywords

References

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