Figure 1. Whole genome oligonucleotide microarray analysis revealed a loss on the short arm of chromosome 5 involving band p13.2. This loss is approximately 312kb in size (37,050,251bp→37,362,606bp) and includes 3 genes (NIPBL, IDN3, and NUP155). Defects in NIPBL are the cause of Cornelia de Lange syndrome type 1 (CDLS1). (385kb oligonucleotide array, Roche NimbleGen System Inc. (Madison, WI), UCSC Genome Browser on Human Mar. 2006 (NCBI36/hg18) Assembly)


Low Unconguted Estriol Levels in the Maternal Quadruple-Marker Screen in a Fetus with Cornelia de Lange Syndrome and a Partial Deletion of the NIPBL Gene

Patrick L. Wilson, Jean Ricci Goodman, Erica Cole, John J. Mulvihill, Ji-Yun Lee, Shibo Li, Andrew Wagner

American Journal of Biomedical Research. 2013, 1(2), 25-27 doi:10.12691/ajbr-1-2-1