Recurrent inverted duplication of 2p with terminal deletion in a patient with the classical phenotype of trisomy 2p23‐pter

Gruchy, Nicolas; Jacquemont, Marie‐Line; Lyonnet, Stanislas; Labrune, Philippe; Kamel, Imen El; Siffroi, Jean‐Pierre; Portnoı̈, Marie-France

doi:10.1002/ajmg.a.31931

Cited by 22 publications

(18 citation statements)

References 29 publications

(30 reference statements)

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“…All patients share several features with the 2p23-pter trisomy phenotype, including severe mental retardation, typical facial appearance, ocular anomalies and congenital heart defects. 20 Two subjects with pure subtelomeric 2p deletion were recently reported by Ravnan et al 22 , but the size of the 2p deleted region was not defined at the molecular level (cases 30 and 31). The two patients showed developmental delay, dysmorphic features and a phenotype similar to that of Angelman syndrome.…”

Section: Discussionmentioning

confidence: 96%

A familial inverted duplication/deletion of 2p25.1–25.3 provides new clues on the genesis of inverted duplications

et al. 2008

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We studied a family in which the same 10 Mb inverted duplication of 2p25.3 -p25.1 segregates in two children and their father, all showing a trisomy phenotype. As FISH analysis demonstrated that the duplication was inverted, we suspected that a contiguous terminal deletion was also present, according to the classical inv dup del type of rearrangements. Although FISH with 2p and 2q subtelomeric probes gave normal results, 100 kb resolution array-C\GH (aCGH) showed that, beside the duplication, a 273 kb deletion was also present. The presence of a single-copy region between the deleted and duplicated regions was further suspected through high-resolution aCGH analysis (B20 kb), although only one informative spot having a normal log ratio was detected. The precise structure of the rearrangement was re-defined by real-time PCR and breakpoint cloning, demonstrating the presence of a 2680 bp single-copy sequence between deleted and duplicated regions and the involvement of a simple repeat with the potential for forming a non-B DNA structure. The rearrangement was not mediated by segmental duplications or short inverted repeats, and the double-strand break might have been repaired by nonhomologous end joining or microhomology-mediated intrastrand repair. These data highlight the fact that concomitant deletions associated with inverted duplications are very likely to be more frequent than classical cytogenetic methods alone have been able to demonstrate. The phenotypic effects of the trisomy and of the terminal 2p deletion are discussed.

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Section: Discussionmentioning

confidence: 96%

A familial inverted duplication/deletion of 2p25.1–25.3 provides new clues on the genesis of inverted duplications

et al. 2008

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“…Chromosome 2 is rich in genes, and the more frequently detected chromosomal alterations are segmental duplications [Lurie et al, 1995;Magee et al, 1998;Gruchy et al, 2007;Guilherme et al, 2009]. This indicates that large deletions are most likely lethal and that the 2p region is highly sensitive to the loss of genetic material.…”

Section: Discussionmentioning

confidence: 99%

Two New de novo Interstitial Duplications Covering 2p14–p22.1: Clinical and Molecular Analysis

Kasnauskienė¹,

Utkus²,

Čiuladaitė³

et al. 2012

Cytogenet Genome Res

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We provide a detailed clinical and molecular analysis of 2 patients with de novo interstitial duplications at 2p14–p16.1 and 2p16.1–p22.1. The 10.13-Mb duplication of chromosome 2p14–p16.1 was identified in a 9-year-old boy with mental retardation, behavioral problems (hyperactivity, hyperphagia, and subsequent vomiting), recurrent respiratory tract infections, macrocephaly, epilepsy, and dysmorphic features. The 17.49-Mb duplication of 2p16.1–p22.1 was found in a 17-year-old girl with moderate mental retardation, behavioral and emotional problems, anxiety, and facial dysmorphic features. Very few cases of de novo interstitial duplication of 2p14–p22.1 are reported in the literature, with the great majority of them lacking a detailed molecular analysis. The abnormal phenotype of these cases is caused by mechanisms such as the overdose of a duplicated gene (or genes), the disruption of a gene or its regulatory sequence by the breakpoints of duplication, or by an excess of genetic material which may disorganize chromatin conformation affecting distant gene expression. The clinical and molecular analysis of these 2 rare de novo interstitial duplications provides useful information which is extremely valuable for clinical evaluation at the prenatal and postnatal level and for the molecular understanding of the underlying mechanisms of human diseases.

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“…The syndrome of partial duplication 2p, as originally reported by Francke [1978], is a well-defined clinical entity, related to a syndromic phenotype with multiple characteristics including psychomotor retardation, dysmorphic facial features encompassing depressed nasal bridge, prominent forehead, micrognathia, congenital heart abnormalities, and genital hypoplasia [Francke and Jones, 1976;Francke, 1978;Al-Saffar et al, 2000;Aviram-Goldring et al, 2000;Thangavelu et al, 2004;Gruchy et al, 2007;Kochilas et al, 2008;Bonaglia et al, 2009]. After reviewing the literature, several cases of partial duplication of chromosome 2 were identified encompassing segment 2p22.3p22.2 [Say et al, 1980;Parruti et al, 1989;Heathcote et al, 1991;Sawyer et al, 1994;Lurie et al, 1995;Mégarbané et al, 1997;Thangavelu et al, 2004;Kochilas et al, 2008].…”

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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Recurrent inverted duplication of 2p with terminal deletion in a patient with the classical phenotype of trisomy 2p23‐pter

Cited by 22 publications

References 29 publications

A familial inverted duplication/deletion of 2p25.1–25.3 provides new clues on the genesis of inverted duplications

A familial inverted duplication/deletion of 2p25.1–25.3 provides new clues on the genesis of inverted duplications

Two New de novo Interstitial Duplications Covering 2p14–p22.1: Clinical and Molecular Analysis

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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