Chromosome 2p15p16.1 microdeletion syndrome: 2.5 Mb deletion in a patient with renal anomalies, intractable seizures and a choledochal cyst

Vishwanathan Hucthagowder, Ta Chiang Liu, Alex R. Paciorkowski, Liu Lin Thio, Martin S. Keller, Christopher D. Anderson, Thomas Herman, Louis P. Dehner, Dorothy K. Grange, Shashikant Kulkarni

Research output: Contribution to journalArticlepeer-review

13 Scopus citations

Abstract

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 including severe developmental delay, congenital microcephaly, intractable epilepsy, and renal anomalies, as well as a congenital choledochal cyst which has not been previously reported in other patients with this cytogenetic defect. We further redefined the previously reported critical region, supporting the presence of a newly recognized microdeletion syndrome involving haploinsufficiency of one or more genes deleted within at least a 1.1 Mb segment of the 2p15p16.1 region.

Original languageEnglish
Pages (from-to)485-489
Number of pages5
JournalEuropean Journal of Medical Genetics
Volume55
Issue number8-9
DOIs
StatePublished - Aug 2012

Keywords

  • 2p15p16.1
  • Choledochal cyst
  • Microdeletion syndrome
  • Renal anomalies
  • SNP array
  • Seizures

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