Holoprosencephaly associated with an apparent isolated 2q37.1-->2q37.3 deletion |
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| Authors: | Lehman N L Zaleski D H Sanger W G Adickes E D |
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| Affiliation: | Department of Pathology, Creighton University/St. Joseph Hospital, Omaha, Nebraska, USA. |
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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. |
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