Chromosome 2p15p16. 1 microdeletion syndrome: 2.5 Mb deletion in a patient with renal anomalies, intractable seizures and a choledochal cyst
V Hucthagowder, TC Liu, AR Paciorkowski… - European Journal of …, 2012 - Elsevier
Chromosome 2p15p16. 1 microdeletion is an emerging syndrome recently described in
patients with dysmorphic facial features, congenital microcephaly, mild to moderate
developmental delay and neurodevelopmental abnormalities. Using clinical ultra-high
resolution Affymetrix SNP 6.0 array we identified a de novo interstitial deletion on the short
arm of chromosome 2, spanning approximately 2.5 Mb in the cytogenetic band position
2p15p16. 1, in a female infant with characteristic features of 2p15p16. 1 deletion syndrome …
patients with dysmorphic facial features, congenital microcephaly, mild to moderate
developmental delay and neurodevelopmental abnormalities. Using clinical ultra-high
resolution Affymetrix SNP 6.0 array we identified a de novo interstitial deletion on the short
arm of chromosome 2, spanning approximately 2.5 Mb in the cytogenetic band position
2p15p16. 1, in a female infant with characteristic features of 2p15p16. 1 deletion syndrome …