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Fetal ventriculomegaly due to familial submicroscopic terminal 6q deletions
Author(s) -
Wadt Karin,
Jensen Lisa Neerup,
Bjerglund Lise,
Lundstrøm Majken,
Kirchhoff Maria,
Kjaergaard Susanne
Publication year - 2012
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.3981
Subject(s) - fetus , ventriculomegaly , phenotype , prenatal diagnosis , terminal (telecommunication) , genetics , biology , medicine , pregnancy , gene , telecommunications , computer science
Submicroscopic terminal 6q deletions are rare. We report on two familial submicroscopic terminal 6q deletions ascertained because of prenatally detected isolated ventriculomegaly and further delineate the variable prenatal and postnatal phenotype. We review published cases of <5 Mb terminal 6q deletions. © 2012 John Wiley & Sons, Ltd.