A rare de novo duplication of chromosome 21q22.12 → q22.3 with other concomitant deletion and duplication of small fragments in 21q associated with Down syndrome: Prenatal diagnosis, molecular cytogenetic characterization

被引:0
|
作者
Qingwei Qi
Xiya Zhou
Yulin Jiang
Na Hao
Jing Zhou
Liang Zhang
机构
[1] Peking Union Medical College,Department of Obstetrics & Gynecology, Peking Union Medical College Hospital, Chinese Academy of Medical Science
[2] Dongdan,undefined
[3] BioChain (Beijing) Science & Technology Inc.,undefined
来源
Molecular Cytogenetics | / 6卷
关键词
Array comparative genomic hybridization (aCGH); Fluorescence in situ hybridization (FISH); Sequence-tagged site (STS); Partial duplication; Prenatal diagnosis; Down syndrome;
D O I
暂无
中图分类号
学科分类号
摘要
引用
收藏
相关论文
共 26 条
  • [1] A rare de novo duplication of chromosome 21q22.12 → q22.3 with other concomitant deletion and duplication of small fragments in 21q associated with Down syndrome: Prenatal diagnosis, molecular cytogenetic characterization
    Qi, Qingwei
    Zhou, Xiya
    Jiang, Yulin
    Hao, Na
    Zhou, Jing
    Zhang, Liang
    MOLECULAR CYTOGENETICS, 2013, 6
  • [2] A de novo duplication of chromosome 21q22.11 → qter associated with Down syndrome: Prenatal diagnosis, molecular cytogenetic characterization and fetal ultrasound findings
    Chen, Chih-Ping
    Huang, Hsu-Kuang
    Ling, Pei-Ying
    Su, Yi-Ning
    Chen, Ming
    Tsai, Fuu-Jen
    Wu, Pei-Chen
    Chern, Schu-Rern
    Chen, Yu-Ting
    Lee, Chen-Chi
    Wang, Wayseen
    TAIWANESE JOURNAL OF OBSTETRICS & GYNECOLOGY, 2011, 50 (04): : 492 - 498
  • [3] Cryptic duplication of 21q in an individual with a clinical diagnosis of Down syndrome
    Forster-Gibson, CJ
    Davies, J
    MacKenzie, JJ
    Harrison, K
    CLINICAL GENETICS, 2001, 59 (06) : 438 - 443
  • [4] Prenatal diagnosis and molecular cytogenetic characterization of a de novo duplication of 15q24.3-q26.1
    Ochando, Isabel
    Martinez, Melanie Cristine Alonzo
    Serrano, Ana Maria
    Urbano, Antonio
    Cazorla, Eduardo
    Calvo, Dolores
    Rueda, Joaquin
    APPLICATION OF CLINICAL GENETICS, 2018, 11 : 77 - 80
  • [5] Prenatal diagnosis and molecular cytogenetic characterization of a pure ring chromosome 21 with a 4.657-Mb 21q22.3 deletion
    Chen, Chih-Ping
    Wang, Liang-Kai
    Chern, Schu-Rern
    Wu, Peih-Shan
    Chen, Shin-Wen
    Wu, Fang-Tzu
    Chen, Yun-Yi
    Town, Dai-Dyi
    Wang, Wayseen
    TAIWANESE JOURNAL OF OBSTETRICS & GYNECOLOGY, 2021, 60 (01): : 157 - 160
  • [6] Prenatal diagnosis and molecular cytogenetic characterization of a de novo interstitial duplication of 11q (11q22.3→q23.3) associated with abnormal maternal serum biochemistry
    Chen, Chih-Ping
    Su, Yi-Ning
    Lin, Shuan-Pei
    Chern, Schu-Rern
    Su, Jun-Wei
    Chen, Yu-Ting
    Lee, Meng-Shan
    Wang, Wayseen
    TAIWANESE JOURNAL OF OBSTETRICS & GYNECOLOGY, 2013, 52 (01): : 120 - 124
  • [7] Mosaic ring chromosome 21, monosomy 21, and isodicentric ring chromosome 21: Prenatal diagnosis, molecular cytogenetic characterization, and association with 2-Mb deletion of 21q21.1-q21.2 and 5-Mb deletion of 21q22.3
    Chen, Chih-Ping
    Lin, Yi-Hui
    Chou, Szu-Yuan
    Su, Yi-Ning
    Chem, Schu-Rern
    Chen, Yu-Ting
    Town, Dai-Dyi
    Chen, Wen-Lin
    Wang, Wayseen
    TAIWANESE JOURNAL OF OBSTETRICS & GYNECOLOGY, 2012, 51 (01): : 71 - 76
  • [8] Prenatal diagnosis and molecular cytogenetic characterization of de novo distal 5p deletion and distal 22q duplication
    Chen, Chih-Ping
    Huang, Jian-Pei
    Chern, Schu-Rern
    Wu, Peih-Shan
    Chen, Shin-Wen
    Wu, Fang-Tzu
    Chen, Wen-Lin
    Lee, Meng-Shan
    Wang, Wayseen
    TAIWANESE JOURNAL OF OBSTETRICS & GYNECOLOGY, 2020, 59 (01): : 140 - 145
  • [9] A rare Down syndrome foetus with de novo 21q;21q rearrangements causing false negative results in non-invasive prenatal testing: a case report
    Hui-Hui Xu
    Mei-Zhen Dai
    Kai Wang
    Yang Zhang
    Fei-Yan Pan
    Wei-Wu Shi
    BMC Medical Genomics, 13
  • [10] Molecular cytogenetic characterization of de novo concomitant proximal 21q deletion of 21q11.2q21.3 and distal Xp deletion of Xp22.33p22.2 due to an unbalanced X;21 translocation detected by amniocentesis
    Chen, Chih-Ping
    Chen, Shin-Wen
    Wu, Chao-Yun
    Chern, Schu-Rern
    Wu, Fang-Tzu
    Wu, Peih-Shan
    Pan, Yen-Ting
    Lee, Chen-Chi
    Chen, Li-Feng
    Wang, Wayseen
    TAIWANESE JOURNAL OF OBSTETRICS & GYNECOLOGY, 2023, 62 (01): : 123 - 127