The first report showing de novo partial 21q monosomy in an adult woman with occult primary ovarian insufficiency (POI)

被引:1
|
作者
Zeng, Jian [1 ]
Huang, Wujian [2 ]
Huang, Mingyan [1 ]
Wang, Zhihong [1 ]
机构
[1] Xiamen Univ, Coll Med, Ctr Mol Diag Genet Dis, Dongfang Hosp, 156 Xierhuanbei Rd, Fuzhou 350025, Fujian, Peoples R China
[2] Xiamen Univ, Coll Med, Ctr Reprod Med, Dongfang Hosp, Fuzhou, Fujian, Peoples R China
关键词
partial 21q monosomy; primary ovarian insufficiency; whole exome sequencing; DELETION;
D O I
10.1515/cclm-2018-1271
中图分类号
R446 [实验室诊断]; R-33 [实验医学、医学实验];
学科分类号
1001 ;
摘要
引用
收藏
页码:E230 / E233
页数:4
相关论文
共 16 条
  • [1] De novo unbalanced t(11q;21q) leading to a partial monosomy 21pter-q22.2 and 11q24-qter in a patient initially diagnosed as monosomy 21
    Riegel, M
    Baumer, A
    Piram, A
    Ortolan, D
    Peres, LC
    Pina-Neto, JM
    GENETIC COUNSELING, 2001, 12 (01): : 69 - 75
  • [2] A case of monosomy 21 found to be an unbalanced de novo t(5p;21q) by fluorescence in situ hybridization
    Flaherty, L
    Moloney, J
    Watson, N
    Robson, L
    Bousfield, L
    Smith, A
    JOURNAL OF INTELLECTUAL DISABILITY RESEARCH, 1998, 42 : 254 - 258
  • [3] PARTIAL MONOSOMY 6Q(Q15Q21) BY DE-NOVO INTERSTITIAL DELETION
    GLOVER, G
    LOPEZ, I
    GABARRON, J
    CARMONA, JA
    CLINICAL GENETICS, 1988, 33 (04) : 308 - 310
  • [4] Detection of paternal origin of fetal de novo rea(21q;21q) down syndrome in a pregnancy of a young woman associated with an abnormal first-trimester maternal serum screening result
    Chen, Chih-Ping
    Jou, Quan-Bin
    Chern, Schu-Rern
    Chen, Shin-Wen
    Wu, Fang-Tzu
    Chen, Wen-Lin
    Wang, Wayseen
    TAIWANESE JOURNAL OF OBSTETRICS & GYNECOLOGY, 2022, 61 (02): : 356 - 358
  • [5] APPLICATION OF MOLECULAR AND CYTOGENETIC TECHNIQUES TO THE DETECTION OF A DE-NOVO UNBALANCED T(11Q, 21Q) IN A PATIENT PREVIOUSLY DIAGNOSED AS HAVING MONOSOMY-21
    HERTZ, B
    BRANDT, CA
    PETERSEN, MB
    PEDERSEN, S
    KONIG, U
    STROMKJAER, H
    JENSEN, PKA
    CLINICAL GENETICS, 1993, 44 (02) : 89 - 94
  • [6] 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
  • [7] Presumptive monosomy 21 with neuronal migration disorder re-diagnosed as de novo unbalanced translocation T(18p;21Q) by fluorescence in situ hybridisation
    Alkan, M
    Ramelli, GP
    Hirsiger, H
    Keser, I
    Remonda, L
    Bühler, EM
    Moser, H
    GENETIC COUNSELING, 2002, 13 (02): : 151 - 156
  • [8] PRENATAL DIAGNOSIS OF A DE NOVO PARTIAL TRISOMY 6q AND PARTIAL MONOSOMY 18p ASSOCIATED WITH CEPHALOCELE: A CASE REPORT
    Karaman, A.
    Karaman, B.
    Cetinkaya, A.
    Karaman, S.
    Demirci, O.
    BALKAN JOURNAL OF MEDICAL GENETICS, 2020, 23 (01) : 99 - 102
  • [9] Case report of newborn with de novo partial trisomy 2q31.2-37.3 and monosomy 9p24.3
    Colangelo, Maurizia
    Alfonsi, Melissa
    Palka, Chiara
    Di Zio, Eleonora
    Di Renzo, Silvana
    Guanciali-Franchi, Paolo
    Palka, Giandomenico
    JOURNAL OF GENETICS, 2018, 97 (01) : 311 - 317
  • [10] Case report of newborn with de novo partial trisomy 2q31.2–37.3 and monosomy 9p24.3
    Maurizia Colangelo
    Melissa Alfonsi
    Chiara Palka
    Eleonora Di Zio
    Silvana Di Renzo
    Paolo Guanciali-Franchi
    Giandomenico Palka
    Journal of Genetics, 2018, 97 : 311 - 317