본문 바로가기
HOME> 논문 > 논문 검색상세

논문 상세정보

Journal of genetic medicine   v.15 no.1, 2018년, pp.34 - 37   KCI
본 등재정보는 저널의 등재정보를 참고하여 보여주는 베타서비스로 정확한 논문의 등재여부는 등재기관에 확인하시기 바랍니다.

1q21.1 microdeletion identified by chromosomal microarray in a newborn with upper airway obstruction

Kim, Yoon Hwa   (Department of Obstetrics and Gynecology, Pusan National University School of Medicine  ); Yang, Ju Seok   (Department of Obstetrics and Gynecology, Pusan National University School of Medicine  ); Lee, Young Joo   (Department of Obstetrics and Gynecology, Pusan National University School of Medicine  ); Bae, Mi Hye   (Biomedical Research Institute, Pusan National University Hospital  ); Park, Kyung Hee   (Biomedical Research Institute, Pusan National University Hospital  ); Lee, Dong Hyung   (Department of Obstetrics and Gynecology, Pusan National University School of Medicine  ); Shin, Kyung-Hwa   (Biomedical Research Institute, Pusan National University Hospital  ); Kim, Seung Chul   (Department of Obstetrics and Gynecology, Pusan National University School of Medicine  );
  • 초록

    A 1q21.1 microdeletion is an extremely rare chromosomal abnormality that results in phenotypic diversity and incomplete penetrance. Patients with a 1q21.1 microdeletion exhibit neurological-psychiatric problems, microcephaly, epilepsy, facial dysmorphism, cataract, and thrombocytopenia absent radius syndrome. We reported a neonate with confirmed intrauterine growth restriction (IUGR), micrognathia, glossoptosis, upper airway obstruction, facial dysmorphism, and eye abnormality at birth as well as developmental delay at the age of 1 year. These clinical manifestations, except for the IUGR and upper airway obstruction, in the neonate indicated a 1q21.1 microdeletion. Here, we report a rare case of a 1q21.1 microdeletion obtained via paternal inheritance in a newborn with upper airway obstruction caused by glossoptosis and tracheal stenosis.


  • 주제어

    Chromosome deletion  . 1q21  . 1 microdeletion syndrome  . Microarray analysis  .

  • 참고문헌 (11)

    1. Gamba BF, Zechi-Ceide RM, Kokitsu-Nakata NM, Vendramini-Pittoli S, Rosenberg C, Krepischi Santos AC, et al. Interstitial 1q21.1 microdeletion is associated with severe skeletal anomalies, dysmorphic face and moderate intellectual disability. Mol Syndromol 2016;7:344-8. 
    2. Christiansen J, Dyck JD, Elyas BG, Lilley M, Bamforth JS, Hicks M, et al. Chromosome 1q21.1 contiguous gene deletion is associated with congenital heart disease. Circ Res 2004;94:1429-35. 
    3. Cheroki C, Krepischi-Santos AC, Szuhai K, Brenner V, Kim CA, Otto PA, et al. Genomic imbalances associated with mullerian aplasia. J Med Genet 2008;45:228-32. 
    4. Szatmari P, Paterson AD, Zwaigenbaum L, Roberts W, Brian J, Liu XQ, et al. Mapping autism risk loci using genetic linkage and chromosomal rearrangements. Nat Genet 2007;39:319-28. 
    5. Stefansson H, Rujescu D, Cichon S, Pietilainen OP, Ingason A, Steinberg S, et al. Large recurrent microdeletions associated with schizophrenia. Nature 2008;455:232-6. 
    6. Haldeman-Englert CR, Jewett T. 1q21.1 recurrent microdeletion. In: Adam MP, Ardinger HH, Pagon RA, Wallace SE, et al., eds. $eneReviews^{(R)}$. Seattle (WA): University of Washington, 1993-2018. 
    7. Basel-Vanagaite L, Goldberg-Stern H, Mimouni-Bloch A, Shkalim V, Bohm D, Kohlhase J. An emerging 1q21.1 deletion-associated neurodevelopmental phenotype. J Child Neurol 2011;26:113-6. 
    8. Shaffer LG, Kashork CD, Saleki R, Rorem E, Sundin K, Ballif BC, et al. Targeted genomic microarray analysis for identification of chromosome abnormalities in 1500 consecutive clinical cases. J Pediatr 2006;149:98-102. 
    9. Brunetti-Pierri N, Berg JS, Scaglia F, Belmont J, Bacino CA, Sahoo T, et al. Recurrent reciprocal 1q21.1 deletions and duplications associated with microcephaly or macrocephaly and developmental and behavioral abnormalities. Nat Genet 2008;40:1466-71. 
    10. Mefford HC, Sharp AJ, Baker C, Itsara A, Jiang Z, Buysse K, et al. Recurrent rearrangements of chromosome 1q21.1 and variable pediatric phenotypes. N Engl J Med 2008;359:1685-99. 
    11. Committee on Genetics and the Society for Maternal-Fetal Medicine. Committee opinion No. 682: Microarrays and next-generation sequencing technology: the use of advanced genetic diagnostic tools in obstetrics and gynecology. Obstet Gynecol 2016;128:e262-8. 

 활용도 분석

  • 상세보기

    amChart 영역
  • 원문보기

    amChart 영역

원문보기

무료다운로드
유료다운로드
  • 원문이 없습니다.

유료 다운로드의 경우 해당 사이트의 정책에 따라 신규 회원가입, 로그인, 유료 구매 등이 필요할 수 있습니다. 해당 사이트에서 발생하는 귀하의 모든 정보활동은 NDSL의 서비스 정책과 무관합니다.

원문복사신청을 하시면, 일부 해외 인쇄학술지의 경우 외국학술지지원센터(FRIC)에서
무료 원문복사 서비스를 제공합니다.

NDSL에서는 해당 원문을 복사서비스하고 있습니다. 위의 원문복사신청 또는 장바구니 담기를 통하여 원문복사서비스 이용이 가능합니다.

이 논문과 함께 출판된 논문 + 더보기