Presumptive direct insertion within chromosome 2 in man

Therkelsen, A. J.; Hultén, Maj; Jonasson, Jon; Lindsten, J.; Christensen, N. C.; Iversen, Torben Moth

doi:10.1111/j.1469-1809.1973.tb00600.x

Cited by 47 publications

(24 citation statements)

References 6 publications

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“…The present case is one of several dup(2p) cases with a neural tube defect [Therkelsen et al, 1973;Fineman et al, 1983;Walbaum et al, 1984;Singer et al, 1987;Sarda et al, 1992;Winsor et al, 1997]. A neuronal migrational disturbance was identified in two additional cases [Neu et al, 1979;Monteleone, 1981].…”

Section: Discussionmentioning

confidence: 89%

Trisomy 2p syndrome: A fetus with anencephaly and postaxial polydactyly

et al. 1999

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We report on a male fetus with partial trisomy 2p21-2pter and monosomy 15q26-15qter due to t(2,15)(p21;q26). This fetus had a typical trisomy 2p phenotype including minor facial anomalies, musculoskeletal defects and two unusual findings: polydactyly and anencephaly. The observation of anencephaly adds support to the theory that genetic material mapping to chromosome band 2p24 is involved in neural tube development. In addition, we propose that a gene on 2p23 may play a role in the morphogenetic patterning of hands and feet.

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Section: Discussionmentioning

confidence: 89%

Trisomy 2p syndrome: A fetus with anencephaly and postaxial polydactyly

et al. 1999

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“…Some individuals also display ventricular and atrial septal defects (VSD and ASD), a patent foramen ovale (PFO), inflow tract (IFT) anomalies, including anomalous pulmonary return, as well as abnormally developed ventricles. In addition, dextrocardia and dextro-transposition of the great arteries (D-TGA) are observed either in isolation or in association with visceral heterotaxy (Francke and Jones, 1976;Lurie et al, 1995;Therkelsen et al, 1973). Of the approximately 60 partial trisomy 2p cases published so far, over 73% encompass duplications of chromosomal band 2p23 (Lurie et al, 1995;Taylor Clelland et al, 2000).…”

Section: Introductionmentioning

confidence: 99%

“…Other typical phenotypes of this syndrome are mental and growth retardation, neural tube defects, characteristic craniofacial, skeletal and genital anomalies, as well as postaxial limb defects (Cassidy et al, 1977;Francke and Jones, 1976;Hahm et al, 1999;Lurie et al, 1995). Syndromic CHD involves outflow tract (OFT) defects, including pulmonary stenosis (PS) and pulmonary atresia (PA), patent ductus arteriosus (PDA), double outlet right ventricle (DORV), and the cyanotic lesion Tetralogy of Fallot (TOF) (Cassidy et al, 1977;Neu et al, 1979;Therkelsen et al, 1973). Some individuals also display ventricular and atrial septal defects (VSD and ASD), a patent foramen ovale (PFO), inflow tract (IFT) anomalies, including anomalous pulmonary return, as well as abnormally developed ventricles.…”

Section: Introductionmentioning

confidence: 99%

Congenital heart disease reminiscent of partial trisomy 2p syndrome in mice transgenic for the transcription factor Lbh

et al. 2005

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Partial trisomy 2p syndrome includes a spectrum of congenital heart disease(CHD) that is characterized by complex malformations of the outflow and inflow tracts, defects in cardiac septation, heart position, as well as abnormal ventricular development. Lbh (limb-bud and heart) is a novel, highly conserved putative transcriptional regulatory protein, which displays a unique spatiotemporal gene expression pattern during early mouse heart development. Here we show that human LBH maps to chromosome 2p23, a genomic region related to CHD in partial trisomy 2p syndrome. Remarkably, transgenic overexpression of Lbh in mice throughout the embryonic myocardium from a cardiomyocyte-specific promoter of the cardiac ankyrin repeat protein gene(Carp/Ankrd1) models CHD reported in humans with partial trisomy 2p syndrome. The malformations in Carp-Lbh transgenic mice reflect impaired pulmonary outflow tract valvulogenesis, cardiac septation, inflow tract morphogenesis, as well as abnormalities in ventricular cardiomyocyte growth. Furthermore, we demonstrate that overexpression of Lbh in cultured mammalian cells represses the synergistic activity of key cardiac transcription factors, Nkx2.5 and Tbx5, leading to reduced activation of the common target gene, Anf (Nppa). Strikingly, reduced levels of Anf expression were also observed in embryonic day 9.5 Carp-Lbh transgenic mice. Thus, repression of Nkx2.5 and Tbx5-mediated gene expression by deregulated Lbh may account in part for the cardiac anomalies observed in these mice. Our findings implicate LBHas a candidate gene for CHD associated with partial trisomy 2p syndrome and suggest an important role of Lbh in transcriptional control during normal cardiogenesis.

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“…For carriers of between-arm (pericentric) insertions, the risk of having an abnormal child with chromosomal imbalance may be high, with estimates that vary form 15 to 50% [Madan and Menko, 1992;Henry et al, 1993;Friedrich et al, 2000;Gardner and Sutherland, 2004]. Chromosome 2 between-arm intrachromosomal insertion is extremely rare as only 2 other cases have been reported [Therkelsen et al, 1973;Pai et al, 1983].…”

Section: Discussionmentioning

confidence: 99%

Partial Trisomy 2p and Partial Monosomy 2q Arising from a Paternal Intrachromosomal 2q-into-2p Between-Arm Insertion and Paracentric Inversion: Molecular Cytogenetic Characterization of a Four-Break Rearrangement

Manolakos¹,

Vetro

Papadopoulou

et al. 2013

Cytogenet Genome Res

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We report on a 26-month-old boy with an interstitial duplication of 2p22.3p22.2 and an interstitial deletion of 2q14.1q21.2. The abnormality was derived from his father having a balanced paracentric inversion and pericentric insertion. The deletion in the child was identified by cytogenetic analysis and characterized in more detail by molecular cytogenetics and array comparative genomic hybridization. The latter revealed a 20-Mb deletion in the long arm and a 5.6-Mb duplication in the short arm of chromosome 2. Fluorescence in situ hybridization in paternal chromosomes characterized an intrachromosomal insertion of 2q14.1q21.2 into 2p23; additionally a paracentric inversion of 2p13p23 was observed. The boy with the unbalanced karyotype suffered from severe psychomotor retardation, thrombophilia due to protein C deficiency, and hypertrophic cardiomyopathy and also had phenotypic abnormalities. Most of these features have previously been described in individuals with interstitial deletion of 2q14.1.

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Presumptive direct insertion within chromosome 2 in man

Cited by 47 publications

References 6 publications

Trisomy 2p syndrome: A fetus with anencephaly and postaxial polydactyly

Trisomy 2p syndrome: A fetus with anencephaly and postaxial polydactyly

Congenital heart disease reminiscent of partial trisomy 2p syndrome in mice transgenic for the transcription factor Lbh

Partial Trisomy 2p and Partial Monosomy 2q Arising from a Paternal Intrachromosomal 2q-into-2p Between-Arm Insertion and Paracentric Inversion: Molecular Cytogenetic Characterization of a Four-Break Rearrangement

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