Implementation of High Resolution Whole Genome Array CGH in the Prenatal Clinical Setting: Advantages, Challenges, and Review of the Literature
Case showing a copy number gain on the short arm of chromosome 17. Representation of the chromosomal and genomic location region on chromosome 17 that has the copy number change in the Database of Genomic Variants. A gain of 1.95 Mb in size which encompasses some OMIM genes and overlaps with a DECIPHER syndrome (the Miller-Dieker syndrome—shown by the red arrow). The area is not covered by a significant number of CNVs determining that it is not polymorphic.