Fetal ventriculomegaly due to familial submicroscopic terminal 6q deletions

Prenat Diagn. 2012 Dec;32(12):1212-7. doi: 10.1002/pd.3981. Epub 2012 Oct 14.

Abstract

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.

Publication types

  • Case Reports
  • Letter
  • Review

MeSH terms

  • Abnormalities, Multiple / genetics
  • Adult
  • Chromosome Deletion
  • Chromosomes, Human, Pair 6 / physiology
  • Female
  • Humans
  • Hydrocephalus / diagnosis
  • Hydrocephalus / diagnostic imaging
  • Hydrocephalus / genetics*
  • Infant
  • Infant, Newborn
  • Karyotyping
  • Male
  • Phenotype
  • Pregnancy
  • Ultrasonography

Supplementary concepts

  • Chromosome 6, monosomy 6q