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 language | English (US) |
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Pages (from-to) | 179-181 |
Number of pages | 3 |
Journal | American journal of medical genetics |
Volume | 100 |
Issue number | 3 |
DOIs | |
State | Published - May 1 2001 |
Keywords
- 2q37 deletion
- Holoprosencephaly
- Lobar variant
ASJC Scopus subject areas
- Genetics(clinical)