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

N L Lehman; D H Zaleski; W G Sanger; E D Adickes

doi:10.1002/ajmg.1245

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.

Authors

N L Lehman¹, D H Zaleski, W G Sanger, E D Adickes

Affiliation

¹ Department of Pathology, Creighton University/St. Joseph Hospital, Omaha, Nebraska, USA.

PMID: 11343300
DOI: 10.1002/ajmg.1245

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.

Publication types

Case Reports

MeSH terms

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