Holoprosencephaly associated with an apparent isolated 2q37.1-->2q37.3 deletion

Am J Med Genet. 2001 May 1;100(3):179-81. doi: 10.1002/ajmg.1245.


A female infant survived 5(1/2) hours after delivery at 33 weeks gestation. Autopsy showed a lobar variant of holoprosencephaly (HPE). Cytogenetic analysis revealed a 2q37.1-->2q37.3 deletion. This case represents the fourth reported case of HPE associated with partial monosomy 2q37 and the first with an apparent isolated 2q37 deletion. Chromosome segment 2q37.1-->2q37.3 may harbor yet another locus important in forebrain development, which, when disrupted, can lead to brain malformations within the HPE spectrum.

Publication types

  • Case Reports

MeSH terms

  • Chromosome Deletion*
  • Chromosomes, Human, Pair 2*
  • Female
  • Holoprosencephaly / diagnosis
  • Holoprosencephaly / genetics*
  • Humans
  • Infant, Newborn
  • Karyotyping