Journal
EUROPEAN JOURNAL OF PEDIATRICS
Volume 169, Issue 4, Pages 463-468Publisher
SPRINGER
DOI: 10.1007/s00431-009-1057-2
Keywords
Hypoplasia of the corpus callosum; Dysmorphic features; Microdeletion; Chromosome 1p31.3p32.2; NFIA gene
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Interstitial deletions or apparently balanced translocations involving bands 1p31 and 1p32 in the short arm of chromosome 1 are rarely described chromosomal imbalances. To our knowledge, there have been six cases documented to date. Five of these cases, where the NFIA gene is involved, show complex central nervous system malformations and in some cases urinary tract defects. We report another case of a microdeletion with involvement of the NFIA gene in the short arm of chromosome 1 (del(1)(p31.3p32.2)) with, amongst other features, hypoplasia of the corpus callosum, ventriculomegaly, and dysmorphic features. A microdeletion 1p31.3p32.2 which includes the NFIA gene is associated with hypoplasia of the corpus callosum, ventriculomegaly, and dysmorphic features.
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