Prenatal diagnosis of de novo (7;19)(q11.2;q13.3) translocation associated with a thick corpus callosum and Wilms tumor of the kidneys

被引:12
|
作者
Cavicchioni, O
Gomes, DM
Leroy, B
Vialard, F
Hillion, Y
Selva, J
Ville, Y [1 ]
机构
[1] Paris Ouest Univ, Dept Obstet & Gynecol, Paris, France
[2] Paris Ouest Univ, Med Genet Serv, Poissy, France
[3] CHI, Anat Pathol Serv, Fetal Pathol Unit, Poissy, France
关键词
de novo (7; 19) translocation; corpus callosum; prenatal diagnosis; Wilms tumor;
D O I
10.1002/pd.1129
中图分类号
Q3 [遗传学];
学科分类号
071007 ; 090102 ;
摘要
We present a case of prenatal diagnosis of a de novo (7;19)(q11.2;q13.3) translocation associated with ultrasound features, including enlarged cisterna magna, normal vermis, thick corpus callosum, micrognathia, small and low-set ears and right hyperechogenic kidney. Karyotyping was performed at 24 weeks of gestation. Termination of pregnancy was accepted at the parents' request. Postmortem examination confirmed the prenatal findings, but revealed bilateral Wilms tumors of the kidneys. Parental karyotype was normal. Copyright (c) 2005 John Wiley & Sons, Ltd.
引用
收藏
页码:876 / 878
页数:3
相关论文
共 23 条
  • [21] PRENATAL DIAGNOSIS AND MOLECULAR CYTOGENETIC CHARACTERIZATION OF DE NOVO PARTIAL TRISOMY 7P (7P15.3→PTER) AND PARTIAL MONOSOMY 13Q (13Q33.3→QTER) ASSOCIATED WITH DANDY-WALKER MALFORMATION) ABNORMAL SKULL DEVELOPMENT AND MICROCEPHALY
    Chen, Chih-Ping
    Chen, Ming
    Su, Yi Ning
    Tsai, Fuu-Jen
    Chern, Schu Rern
    Hsu, Chin Yuan
    Wu, Pei Chen
    Town, Dai-Dyi
    Lee, Dong Jay
    Ma, Gwo-Chin
    Wang, Wayseen
    TAIWANESE JOURNAL OF OBSTETRICS & GYNECOLOGY, 2010, 49 (03): : 320 - 326
  • [22] Prenatal diagnosis of a 5.44-Mb de novo 22q13.31q13.33 deletion encompassing SHANK3 associated with mosaicism for r(22)(p11.2q11.31) and monosomy 22 in a fetus with severe right hydronephrosis and hydroureter on ultrasound and determination of a maternal origin of the deletion and r(22) by quantitative fluorescent polymerase chain reaction
    Chen, Chih-Ping
    Wang, Liang-Kai
    Wu, Fang-Tzu
    Pan, Yen-Ting
    Wu, Peih-Shan
    Pan, Chen-Wen
    Wang, Wayseen
    TAIWANESE JOURNAL OF OBSTETRICS & GYNECOLOGY, 2025, 64 (02): : 334 - 338
  • [23] De novo unbalanced translocation resulting in monosomy for distal 5p (5p14.1 → pter) and 14q (14q32.31 → qter) associated with fetal nuchal edema, microcephaly, intrauterine growth restriction, and single umbilical artery: Prenatal diagnosis and molecular cytogenetic characterization
    Chen, Chih-Ping
    Fu, Chung-Hu
    Chern, Schu-Rern
    Wu, Peih-Shan
    Su, Jun-Wei
    Lee, Chen-Chi
    Lee, Meng-Shan
    Wang, Wayseen
    TAIWANESE JOURNAL OF OBSTETRICS & GYNECOLOGY, 2013, 52 (03): : 401 - 406