Article
Fetal ventriculomegaly due to familial submicroscopic terminal 6q deletions.
Prenatal diagnosis - 1 Dec 2012
Wadt Karin, Jensen Lisa Neerup, Bjerglund Lise, Lundstrøm Majken, Kirchhoff Maria, Kjaergaard Susanne
Abstract excerpt
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.
Topics
- Abnormalities, Multiple
- Adult
- Chromosome Deletion
- Chromosomes, Human, Pair 6
- Female
- Humans
- Hydrocephalus
- Infant
- Infant, Newborn
- Karyotyping
- Male
- Phenotype
- Pregnancy
- Ultrasonography