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Ethmocephaly caused by de novo translocation 18;21—prenatal diagnosis
Author(s) -
Goldstein Israel,
Weissman Amir,
BrillZamir Ronit,
Laevsky Ilana,
Drugan Arie
Publication year - 2003
Publication title -
prenatal diagnosis
Language(s) - English
Resource type - Journals
SCImago Journal Rank - 0.956
H-Index - 97
eISSN - 1097-0223
pISSN - 0197-3851
DOI - 10.1002/pd.689
Subject(s) - cyclopia , chromosomal translocation , in utero , prenatal diagnosis , medicine , biology , fetus , pregnancy , genetics , holoprosencephaly , gene
Abstract 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 © 2003 John Wiley & Sons, Ltd.