Developmental delay and dysmorphic features associated with a previously undescribed deletion on chromosome 1.

Abstract

We report an 18 month old girl with developmental delay, dysmorphic features, and a karyotype 46,XX,del (1) (p32. lp32.3). To our knowledge the clinical features associated with this deletion have not been reported previously. (J Med Genet 1995;32:636-637) Chromosomal abnormalities involving lp are rare. We report the smallest deletion yet described, in a girl with developmental delay and multiple dysmorphic features.

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

“…Additionally, we demonstrate that Fgf8 is a crucial ligand signaling upstream of the Mapk pathway to induce astroglial differentiation via the pro-astrogliogenic transcription factors Nfia and Nfib. Taken together, our findings elucidate a key cellular mechanism that reconciles the relationship between delayed astroglial development and callosal agenesis, and are consistent with previous observations following mouse or human mutations in either Fgf signaling genes or Nfi genes (Barton et al, 1995; Chen et al, 2011; Dode and Hardelin, 2009; Dode et al, 2003; Ji et al, 2014; Koehler et al, 2010; Lajeunie et al, 1999; Li et al, 2012; Lu et al, 2007; McCabe et al, 2011; Piper et al, 2009a; Rao et al, 2014; Raybaud and Di Rocco, 2007; Sajan et al, 2013; Shu et al, 2003a; Sivasankaran et al, 1997; Smith et al, 2006; Steele-Perkins et al, 2005; Stewart et al, 2016; Tokumaru et al, 1996; Wilkie et al, 1995). …”

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

“…An additional case of interstitial deletion in the short arm of chromosome 1 was described by Barton et al. [5] in an 18-month-old girl where a small deletion of bands 1p32.1p32.3 is associated with developmental delay and dysmorphic features. The chromosomal band 1p31.3 and the NFIA gene, however, were not involved in this deletion.…”

“…Array CGH profile of chromosome 1 of normal mother (a) and normal father (b) Deletion size and involved genes in our patient (a) and comparison to cases described in the literature[2,3,5] (b)…”

Severe clinical phenotype due to an interstitial deletion of the short arm of chromosome 1: A brief review

“…4). Most reported cases are of children or adults with psychomotor retardation and multiple minor anomalies [Bene et al, 1979;Petersen and Warburg, 1987;Lai et al, 1991;Yoshino et al, 1991;Mattia et al, 1992;Barton et al, 1995]. Table I shows a compilation of the anomalies reported.…”

“…4) [Biegel et al, 1993] also developed neuroblastoma and the deleted segment in this patient includes the putative neuroblastoma locus. There are also many publications of neoplasms associated with loss of heterozygosity and cytogenetic abnormalities involving [Biegel et al, 1993], B. del(1)(p34.1p36.1) [Howard and Porteus, 1990], C. del(1)(p32.3p34.1) [Yoshino et al, 1991], D. del(1)(p32.1p32.3) [Barton et al, 1995], E. del(1)(p22.3p31.3) [Lai et al, 1991], F. del(1)(p21p22.3), our patient, G. del(1)(p32p34.3) [Köhler, 1993], H. del(1)(p22p32) [Bene et al, 1979], I. del(1)(p21p22.2) [Hertz and Jensen, 1985], J. del(1)(p22.1p32.1) [Ikeuchi et al, 1982], K. del(1)(p22.1p31.2) [Lai et al, 1991], L. del(1)(p22.1p31.2) [Petersen and Warburg, 1987], M. del(1)(p13.3p22.3) [Mattia et al, 1992], N. del(1)(p13.3p22.3) [Tabata et al, 1991]. [Biegel et al, 1993], B [Howard and Porteus, 1990], C [Yoshino et al, 1991], D [Barton et al, 1995], E [Lai et al, 1991], F Our patient, H [Bene et al, 1979], I [Hertz and Jensen, 1985], K [Lai et al, 1991], L [Petersen and Warburg, 1987], M [Mattia et al, 1992], and N [Tabata et al, 1991].…”