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A Novel Strategy Combining Array-CGH, Whole-exome Sequencing and In Utero Electroporation in Rodents to Identify Causative Genes for Brain Malformations
08:22

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Fetal ventriculomegaly due to familial submicroscopic terminal 6q deletions

Karin Wadt, Lisa Neerup Jensen, Lise Bjerglund

    Prenatal Diagnosis
    |October 16, 2012
    PubMed

    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.

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