Chromosome 1p32-p31 deletion syndrome: Prenatal diagnosis by array comparative genomic hybridization using uncultured amniocytes and association with NFIA haploinsufficiency, ventriculomegaly, corpus callosum hypogenesis, abnormal external genitalia, and intrauterine growth restriction

Abstract

Prenatal diagnosis of ventriculomegaly with an abnormal corpus callosum should alert subtle chromosome aberrations and prompt molecular cytogenetic investigation if necessary. Fetuses with chromosome 1p32-p31 deletion syndrome and haploinsufficiency of the NFIA gene may present ventriculomegaly, corpus callosum hypogenesis, abnormal external genitalia, and intrauterine growth restriction in the third trimester.

Astroglial-Mediated Remodeling of the Interhemispheric Midline Is Required for the Formation of the Corpus Callosum

“…Since human individuals with NFIA haploinsufficiency, as well as Nfia and Nfib knockout mice, exhibit callosal malformations (Chen et al, 2011; Lu et al, 2007; Piper et al, 2009a; Sajan et al, 2013; Shu et al, 2003a; Steele-Perkins et al, 2005), we sought to investigate whether Nfi transcription factors regulate callosal development via astroglial IHF remodeling. Examination of two cases of human NFIA and NFIB haploinsufficiency using structural MRI revealed that these individuals display abnormal retention of the IHF associated with callosal agenesis (Figure 6E).…”

Familial craniosynostosis associated with a microdeletion involving the NFIA gene

“…Several studies have reported CNS malformations, including hypoplastic or absent corpus callosum, hydrocephalus, ventriculomegaly, Chiari type I malformations, and developmental delay in the chromosomal 1p32-p31 deletion syndrome (Campbell et al, 2002;Koehler et al, 2010;Chen et al, 2011;Ji et al, 2014;Rao et al, 2014). However, only a single patient with a 1p31 microdeletion had documented craniosynostosis (metopic suture closure).…”

Prenatal diagnosis of agenesis of the corpus callosum and cerebellar vermian hypoplasia associated with a microdeletion on chromosome 1p32a

“…Interstitial deletions of different sizes involving 1p31 and 1p32 in the short arm of chromosome 1 are rare and have been described in six reports involving seven patients [ 2 , 4 , 5 , 8 , 9 , 11 ] including the one described by Koehler et al [ 8 ] and a fetus recently reported by Chen et al [ 5 ]. Individuals with haploinsufficiency of the NFIA gene shared corpus callosal abnormalities and partly shared other CNS malformations including ventriculomegaly, congenital hydrocephalus, Chiari type I malformation and tethered spinal cord.…”