Combined partial trisomy 3p monosomy 5p resulting in sonographic abnormalities

被引：0
作者：
Entezami, M
Coumbos, A
Runkel, S
Vogel, M
Wegner, R
机构：
[1] FREE UNIV BERLIN,DEPT GYNECOL,MED CTR BENJAMIN FRANKLIN,D-1000 BERLIN,GERMANY
[2] HUMBOLDT UNIV BERLIN,MED CTR RUDOLF VIRCHOW,INST PEDIAT PATHOL,BERLIN,GERMANY
[3] HUMBOLDT UNIV BERLIN,MED CTR RUDOLF VIRCHOW,INST HUMAN GENET,BERLIN,GERMANY
来源：
CLINICAL GENETICS | 1997年 / 52卷 / 02期
关键词：
cri-du-chat syndrome; familial translocation; partial monosomy 5; partial trisomy 3; polyhydramnios; prenatal diagnosis; single umbilical artery;
D O I：
暂无
中图分类号：
Q3 [遗传学];
学科分类号：
071007 ; 090102 ;
摘要：
We report here a case of partial trisomy of the short arm of chromosome 3 combined with partial monosomy 5p due to malsegregation of a balanced maternal translocation t(3:5). The newborn demonstrated esophageal atresia and complex cerebral malformations. Conspicuous sonographic findings offering the chance of prenatal detection included polyhydramnios without visualization of the stomach, as well as a single umbilical artery. The child died 8 days postpartum.
引用
收藏
页码：96 / 99
页数：4
相关论文
共 34 条
  • [21] 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
  • [22] Partial trisomy 16q and partial monosomy 7p of a fetus derivated from paternal balanced translocation A case report
    Xie, Hui-Hui
    Liu, Tong
    Zhang, Jing-Bo
    Zhai, Jing-Fang
    Liu, Ying
    MEDICINE, 2021, 100 (07) : E24382
  • [23] Phenotype-cytogenetic correlation in partial trisomy 13q and trisomy 18p resulting from maternal origin
    Eid, Maha M.
    Eid, Ola M.
    Mohamed, Amal M.
    Abdelghany, Asia E.
    Kader, Rania M. A. Abdel
    Taher, Mohamed B.
    Sayed-Ahmed, Mohammed M.
    Salam, Ghada M. H. Abdel
    Afifi, Hanan H.
    HUMAN GENE, 2025, 43
  • [24] 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
  • [25] Characterization of a de novo Complex Chromosomal Rearrangement in a Patient With Cri-du-chat and Trisomy 5p Syndromes
    Vera-Carbonell, Ascension
    Antonio Bafalliu, Juan
    Guillen-Navarro, Encarna
    Escalona, Ariadna
    Ballesta-Martinez, Maria J.
    Fuster, Carme
    Fernandez, Asuncion
    Lopez-Exposito, Isabel
    AMERICAN JOURNAL OF MEDICAL GENETICS PART A, 2009, 149A (11) : 2513 - 2521
  • [26] Prenatal Diagnosis of 5p Deletion Syndrome with Brain Abnormalities by Ultrasonography and Fetal Magnetic Resonance Imaging: A Case Report
    Kaymak, Didem
    Alpay, Verda
    Erenel, Hakan
    Adaletli, Ibrahim
    Comunoglu, Nil
    Madazli, Riza
    FETAL AND PEDIATRIC PATHOLOGY, 2020, 39 (05) : 446 - 451
  • [27] Prenatal diagnosis of partial monosomy 18p(18p11.2→pter) and trisomy 21q(21q22.3→qter) with alobar holoprosencephaly and premaxillary agenesis
    Chen, CP
    Chern, SR
    Wang, W
    Lee, CC
    Chen, WL
    Chen, LF
    Chang, TY
    Tzen, CY
    PRENATAL DIAGNOSIS, 2001, 21 (05) : 346 - 350
  • [28] Partial monosomy 13q (13q21.32→qter) and partial trisomy 8p (8p12→pter) presenting with anencephaly and increased nuchal translucency: array comparative genomic hybridization characterization
    Chen, Chih-Ping
    Su, Yi-Ning
    Tsai, Fuu-Jen
    Lin, Ming-Huei
    Wu, Pei-Chen
    Chern, Schu-Rern
    Lee, Chen-Chi
    Pan, Chen-Wen
    Wang, Wayseen
    TAIWANESE JOURNAL OF OBSTETRICS & GYNECOLOGY, 2011, 50 (02): : 205 - 211
  • [29] Partial trisomy 20p resulting from recombination of a maternal pericentric inversion: case report of a prenatal diagnosis by chorionic villus sampling
    Molina-Gomes, D
    Nebout, V
    Daikha-Dahmane, F
    Vialard, F
    Ville, Y
    Selva, J
    PRENATAL DIAGNOSIS, 2006, 26 (03) : 239 - 241
  • [30] 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
1234