Brief clinical report: Holoprosencephaly associated with an apparent isolated 2q37.1→2q37.3 deletion

Norman L. Lehman, Dianna H. Zaleski, Warren G. Sanger, Edward D. Adickes

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Abstract

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.

Original languageEnglish (US)
Pages (from-to)179-181
Number of pages3
JournalAmerican journal of medical genetics
Volume100
Issue number3
DOIs
Publication statusPublished - May 1 2001

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Keywords

  • 2q37 deletion
  • Holoprosencephaly
  • Lobar variant

ASJC Scopus subject areas

  • Genetics
  • Genetics(clinical)

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