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