Ethmocephaly caused by de novo translocation 18;21 -: prenatal diagnosis

被引:2
|
作者
Goldstein, I
Weissman, A
Brill-Zamir, R
Laevsky, I
Drugan, A
机构
[1] Rambam Med Ctr, Dept Obstet & Gynecol, IL-31096 Haifa, Israel
[2] Rambam Med Ctr, Inst Genet, Haifa, Israel
关键词
ethmocephaly; prenatal diagnosis; cyclopia; hypotelorism;
D O I
10.1002/pd.689
中图分类号
Q3 [遗传学];
学科分类号
071007 ; 090102 ;
摘要
Ethmocephaly is a rare anomaly associated with partial failure of cleavage of the prosencephalon. Morphologically, it is closely related to cyclopia. We present an extremely rare case of ethmocephaly diagnosed in utero and caused by an unbalanced de novo translocation 18;21. Copyright (C) 2003 John Wiley Sons, Ltd.
引用
收藏
页码:788 / 790
页数:3
相关论文
共 50 条
  • [31] De novo balanced translocation (6;18)(q21;q21.3) in a patient with heterotaxia
    Kato, R
    Yamada, Y
    Niikawa, N
    AMERICAN JOURNAL OF MEDICAL GENETICS, 1996, 66 (02): : 184 - 186
  • [32] PRENATAL DIAGNOSIS OF AN INHERITED TRANSLOCATION BETWEEN CHROMOSOMES NO 9 AND 18
    EBBIN, AJ
    WILSON, MG
    TOWNER, JW
    SLAUGHTER, JP
    JOURNAL OF MEDICAL GENETICS, 1973, 10 (01) : 65 - 69
  • [33] Prenatal diagnosis of a de novo ring chromosome 11.
    Mohamed, AN
    Ebrahim, SA
    Aatre, R
    Evans, MI
    AMERICAN JOURNAL OF HUMAN GENETICS, 2000, 67 (04) : 150 - 150
  • [34] DE NOVO MOSAIC MARKER CHROMOSOME DETECTED IN PRENATAL DIAGNOSIS
    Yuregir, Ozge Ozalp
    Yilmaz, Zerrin
    Sahin, Feride Iffet
    Bilezikci, Banu
    Yanik, Filiz
    TURKISH JOURNAL OF OBSTETRICS AND GYNECOLOGY, 2008, 5 (01) : 17 - 21
  • [35] Prenatal diagnosis of de novo X;autosorne translocations.
    Cotter, PD
    Abrams, L
    GENETICS IN MEDICINE, 2004, 6 (04) : 365 - 365
  • [36] Prenatal diagnosis of holoprosencephaly with ethmocephaly via 3-dimensional sonography
    Lee, Gui-Se-Ra
    Hur, Soo Young
    Shin, Jong-Chul
    Kim, Soo-Pyung
    Kim, Sa Jin
    JOURNAL OF CLINICAL ULTRASOUND, 2006, 34 (06) : 306 - 308
  • [37] TRISOMY-18 SYNDROME DUE TO DE-NOVO TRANSLOCATION
    HECHT, F
    GENTILE, G
    KAPLAN, E
    BRYANT, J
    ARAKAKI, D
    LANCET, 1963, 1 (727): : 114 - &
  • [38] Prenatal diagnosis of a trisomy 21 fetus with an unusual familial t(15;21) translocation
    Kim, KC
    Jackson, KE
    Pridjian, G
    Mao, R
    Li, MM
    AMERICAN JOURNAL OF HUMAN GENETICS, 2002, 71 (04) : 297 - 297
  • [39] Prenatal diagnosis of monosomy 18p involving a jumping translocation
    Edwards, Sandra
    Waters, Jonathan J.
    PRENATAL DIAGNOSIS, 2008, 28 (08) : 764 - 766
  • [40] Are de novo rea(21;21) chromosomes really de novo?
    Herve, Berenice
    Quibel, Thibaud
    Taieb, Stephane
    Ruiz, Mireille
    Molina-Gomes, Denise
    Vialard, Francois
    CLINICAL CASE REPORTS, 2015, 3 (10): : 786 - 789