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Fig
ure
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)
From
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
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