title: Holoprosencephaly associated with an apparent isolated 2q37.1-->2q37.3 deletion.
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.
authors.affiliation: Department of Pathology, Creighton University/St. Joseph Hospital, Omaha, Nebraska, USA.
authors.forename: N L
authors.initials: NL
authors.lastname: Lehman
authors.forename: D H
authors.initials: DH
authors.lastname: Zaleski
authors.forename: W G
authors.initials: WG
authors.lastname: Sanger
authors.forename: E D
authors.initials: ED
authors.lastname: Adickes
mesh_terms: D002872:Chromosome Deletion; D002889:Chromosomes, Human, Pair 2; D005260:Female; D016142:Holoprosencephaly / Q000175:diagnosis / Q000235:genetics*; D006801:Humans; D007231:Infant, Newborn; D007621:Karyotyping