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.
Subject(s)
Hydrocephalus/genetics , Abnormalities, Multiple/genetics , Adult , Chromosome Deletion , Chromosomes, Human, Pair 6/physiology , Female , Humans , Hydrocephalus/diagnosis , Hydrocephalus/diagnostic imaging , Infant , Infant, Newborn , Karyotyping , Male , Phenotype , Pregnancy , UltrasonographyABSTRACT
Array-comparative genomic hybridization (array-CGH) is a very sensitive method for identifying chromosomal imbalances and is now used on a clinical basis for prenatal diagnosis. This article reviews the advantages and disadvantages of the method, the ethical considerations and the current recommendations for prenatal use in Denmark according to a new national guideline from The Danish Society of Foetal Medicine and the Danish Society of Medical Genetics.