Clinical and Experimental Pediatrics

대한소아청소년과학회 (The Korean Pediatric Society)
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A case of de novo duplication of 15q24-q26.3

  • Kim, Eun-Young (Department of Pediatrics, Pusan Paik Hospital, Inje University College of Medicine) ;
  • Kim, Yu-Kyong (Department of Pediatrics, Pusan Paik Hospital, Inje University College of Medicine) ;
  • Kim, Mi-Kyoung (Department of Pediatrics, Pusan Paik Hospital, Inje University College of Medicine) ;
  • Jung, Ji-Mi (Department of Pediatrics, Pusan Paik Hospital, Inje University College of Medicine) ;
  • Jeon, Ga-Won (Department of Pediatrics, Pusan Paik Hospital, Inje University College of Medicine) ;
  • Kim, Hye-Ran (Department of Clinical Pathology, Pusan Paik Hospital, Inje University College of Medicine) ;
  • Sin, Jong-Beom (Department of Pediatrics, Pusan Paik Hospital, Inje University College of Medicine)
  • 투고 : 2010.08.19
  • 심사 : 2010.12.10
  • 발행 : 2011.06.15
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초록

Distal duplication, or trisomy 15q, is an extremely rare chromosomal disorder characterized by prenatal and postnatal overgrowth, mental retardation, and craniofacial malformations. Additional abnormalities typically include an unusually short neck, malformations of the fingers and toes, scoliosis and skeletal malformations, genital abnormalities, particularly in affected males, and, in some cases, cardiac defects. The range and severity of symptoms and physical findings may vary from case to case, depending upon the length and location of the duplicated portion of chromosome 15q. Most reported cases of duplication of the long arm of chromosome 15 frequently have more than one segmental imbalance resulting from unbalanced translocations involving chromosome 15 and deletions in another chromosome, as well as other structural chromosomal abnormalities. We report a female newborn with a de novo duplication, 15q24- q26.3, showing intrauterine overgrowth, a narrow asymmetric face with down-slanting palpebral fissures, a large, prominent nose, and micrognathia, arachnodactyly, camptodactyly, congenital heart disease, hydronephrosis, and hydroureter. Chromosomal analysis showed a 46,XX,inv(9)(p12q13),dup(15)(q24q26.3). Array comparative genomic hybridization analysis revealed a gain of 42 clones on 15q24-q26.3. This case represents the only reported patient with a de novo 15q24-q26.3 duplication that did not result from an unbalanced translocation and did not have a concomitant monosomic component in Korea.

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참고문헌

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  8. Overgrowth-associated partial trisomy 15q24.3-qter and mosaic 11p15.5 duplication involving Silver-Russell region in a patient with lateralized asymmetry and developmental delay vol.30, pp.4, 2011, https://doi.org/10.1097/mcd.0000000000000378