title: A novel 1p31.3p32.2 deletion involving the NFIA gene detected by array CGH in a patient with macrocephaly and hypoplasia of the corpus callosum.
abstract: 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.
authors.affiliation: Medizinisch Genetisches Zentrum München, Bayerstr. 3-5, 80335, Munich, Germany. koehler@mgz-muenchen.de
authors.forename: Udo
authors.initials: U
authors.lastname: Koehler
authors.forename: Elke
authors.initials: E
authors.lastname: Holinski-Feder
authors.forename: Birgit
authors.initials: B
authors.lastname: Ertl-Wagner
authors.forename: Juergen
authors.initials: J
authors.lastname: Kunz
authors.forename: Arpad
authors.initials: A
authors.lastname: von Moers
authors.forename: Hubertus
authors.initials: H
authors.lastname: von Voss
authors.forename: Chayim
authors.initials: C
authors.lastname: Schell-Apacik
mesh_terms: D061085:Agenesis of Corpus Callosum; D001921:Brain / Q000002:abnormalities; D002872:Chromosome Deletion; D002878:Chromosomes, Human, Pair 1 / Q000235:genetics*; D002893:Chromosomes, Human, Pair 3 / Q000235:genetics*; D005260:Female; D006801:Humans; D007223:Infant; D007621:Karyotyping; D008279:Magnetic Resonance Imaging; D051839:NFI Transcription Factors / Q000235:genetics*; D020411:Oligonucleotide Array Sequence Analysis / Q000295:instrumentation*
chemical_list: D051839:NFI Transcription Factors; C497592:NFIA protein, human