Prenatal diagnosis of ring chromosome 2 with lissencephaly and 2p25.3 and 2q37.3 microdeletions detected using array comparative genomic hybridization

Gene. 2013 Apr 25;519(1):164-8. doi: 10.1016/j.gene.2013.01.055. Epub 2013 Feb 9.


We present rapid aneuploidy diagnosis of ring chromosome 2 with 2p25.3 and 2q37.3 microdeletions by aCGH using uncultured amniocytes in a fetus with IUGR, microcephaly, lissencephaly and ambiguous external genitalia. Our case adds lissencephaly to the list of CNS abnormalities in ring chromosome 2 with 2p25.3 and 2q37.3 microdeletions. We discuss the consequence of haploinsufficiency of HDAC4, KIF1A, PASK, HDLBP, FRAP2 and D2HGDH on 2q37.3, and haploinsufficiency of MYT1L, SNTG2 and TPO on 2p25.3 in this case.

Publication types

  • Research Support, Non-U.S. Gov't

MeSH terms

  • Adult
  • Aneuploidy
  • Chromosome Deletion*
  • Chromosomes, Human, Pair 2 / genetics*
  • Comparative Genomic Hybridization / instrumentation
  • Comparative Genomic Hybridization / methods*
  • Cytogenetic Analysis
  • Female
  • Genetic Association Studies
  • Genetic Markers
  • Humans
  • In Situ Hybridization, Fluorescence
  • Lissencephaly / genetics
  • Pregnancy
  • Prenatal Diagnosis / methods*
  • Ring Chromosomes*


  • Genetic Markers