Prenatal diagnosis of de novo mosaic distal 18q deletion associated with congenital anomalies

被引:11
|
作者
Chen, CP
Tzen, CY
Chang, TY
Lin, CJ
Wang, W
Lee, CC
Chen, LF
Chen, WL
机构
[1] Mackay Mem Hosp, Dept Obstet & Gynecol, Taipei, Taiwan
[2] Mackay Mem Hosp, Dept Med Res, Taipei, Taiwan
[3] Natl Yang Ming Univ, Dept Nursing, Taipei 112, Taiwan
[4] Mackay Mem Hosp, Dept Pathol, Taipei, Taiwan
关键词
D O I
10.1002/uog.45
中图分类号
O42 [声学];
学科分类号
070206 ; 082403 ;
摘要
引用
收藏
页码:202 / 204
页数:3
相关论文
共 50 条
  • [21] A CASE OF DE NOVO MOSAIC 18q21.3 DELETION WITH A MILD PHENOTYPE
    Alp, M. Y.
    Cebi, A. H.
    Seyhan, S.
    Cansu, A.
    Ikbal, M.
    GENETIC COUNSELING, 2014, 25 (01): : 71 - 73
  • [22] Prenatal diagnosis of de novo partial trisomy 18p and partial monosomy 18q recurrent in a family with fatal aortic coarctation
    Hu, Hua
    Hao, Jia
    Yao, Hong
    Chang, Qing
    Li, Rui
    Zhang, Xiaohang
    Liang, Zhiqing
    GENE, 2013, 517 (01) : 132 - 136
  • [23] 14q terminal deletion:: Prenatal diagnosis in a child with severe congenital anomalies
    Mertens, DJLM
    De Die-Smulders, CEM
    Kampschöer, PHNM
    Offermans, JPM
    Engelen, JJM
    Hamers, AJH
    Lammens, M
    Schrander-Stumpel, CTRM
    GENETIC COUNSELING, 2000, 11 (04): : 341 - 346
  • [24] A Korean Case of De Novo 18q Deletion Syndrome With a Large Atrial Septal Defect and Cyanosis
    Kim, Young Jin
    Park, Tae Sung
    Han, Mi Young
    Yoon, Hoi Soo
    Choi, Yong-Sung
    ANNALS OF LABORATORY MEDICINE, 2015, 35 (02) : 272 - 274
  • [25] Morphological defects in distal 18q deletion syndrome: a case report
    Georgescu, T.
    Lisievici, A. C.
    Barbu, S. A.
    Dumitru, A.
    Voinea, O.
    Bohiltea, R.
    Munteanu, O.
    VIRCHOWS ARCHIV, 2020, 477 : S114 - S114
  • [26] Clinical and molecular cytogenetic description of a female patient with de novo 18q inversion duplication/deletion
    Mahrous, Rana
    Gabal, Mohamed S.
    Eid, Ola M.
    Ashaat, Engy A.
    Aglan, Mona S.
    Shoman, Ahmed E.
    Mohamed, Amal M.
    GENE REPORTS, 2021, 25
  • [27] Fetal hemivertebra: a rare form of 18q deletion prenatal presentation
    Laranjo, Mafalda
    Marinho, Marcia
    Brito, Conceicao
    Godinho, Cristina
    BMJ CASE REPORTS, 2023, 16 (02)
  • [28] Prenatal diagnosis of i(18q) and dup(18q) cases by Quantitative Fluorescent Polymerase Chain Reaction
    Castro-Volio, Isabel
    Ortiz-Montero, Fernando
    Valle-Bourrouet, Luisa
    Malespin-Bendana, Wendy
    CHROMOSOME RESEARCH, 2013, 21 : S61 - S61
  • [29] PRENATAL-DIAGNOSIS OF 46,XX,I(18Q) ASSOCIATED WITH HOLOPROSENCEPHALY AND CYCLOPIA
    FERRE, MM
    KEENE, CL
    JEWELL, AJ
    STETKA, DG
    AMERICAN JOURNAL OF HUMAN GENETICS, 1993, 53 (03) : 1568 - 1568
  • [30] Prenatal diagnosis of de novo distal 11q deletion associated with sonographic findings of unilateral duplex renal system, pyelectasis and orofacial clefts
    Chen, CP
    Chern, SR
    Tzen, CY
    Lee, MS
    Pan, CW
    Chang, TY
    Wang, W
    PRENATAL DIAGNOSIS, 2001, 21 (04) : 317 - 320