Chromosome 2q duplications: Case report of a de novo interstitial duplication and review of the literature

Bird, Lynne M.; Mascarello, James T.

doi:10.1002/1096-8628(20010415)100:1<13::aid-ajmg1185>3.0.co;2-5

Cited by 26 publications

(5 citation statements)

References 30 publications

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“…However, larger 2q33q37 duplications have been reported in two patients with developmental delay, growth deficiency, and characteristic facial features. 66,67 A 13-month-old female infant with a de novo duplication of 2q33q37.3 presented with developmental delay, microcephaly, and characteristic facial features, including frontal bossing, down slanting palpebral fissures, hypertelorism, a broad and flat nasal bridge, long philtrum, high-arched palate, micrognathia, overfolded helices, and a short neck, 66 whereas a 5-month-old boy with a de novo duplication of 2q33.1q37.1 exhibited growth deficiency, developmental delay, atrial septal defect, dysplastic kidneys, hypotonia, undescended testicles, and dysmorphic features, including hypertelorism, low nasal bridge, iris coloboma, posteriorly rotated ears, short nose, long philtrum, micrognathia, and midface hypoplasia. 67 Patient 3 exhibits the microcephaly, retrognathia, and long philtrum observed in those two patients.…”

Section: Discussionmentioning

confidence: 99%

Deletion and duplication of 15q24: Molecular mechanisms and potential modification by additional copy number variants

El‐Hattab

Zhang

Maxim

et al. 2010

Genetics in Medicine

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Purpose: To investigate the potential influence of additional copy number variants in patients with 15q24 rearrangements and the possible underlying mechanisms for these rearrangements. Methods: Oligonucleotide-based chromosomal microarray analyses were performed, and the results were subsequently confirmed by fluorescence in situ hybridization analyses. Long-range polymerase chain reaction amplification and DNA sequencing analysis were used for breakpoint junction sequencing. Results: We describe a 15-year-old boy with cognitive impairment and dysmorphic features with deletions in 15q24 and 3q21, a 2-month-old female infant with growth deficiency, heterotaxy, cardiovascular malformations, intestinal atresia, and duplications in 15q24 and 16q22, and a 3.5-year-old boy with developmental delay, microcephaly, and dysmorphic features, with duplications in 15q24 and 2q36.3q37.1. Breakpoint sequencing for the 15q24 deletion in the first patient revealed microhomology and suggested the underlying mechanism of either nonhomologous end joining or fork stalling and template switching/microhomology-mediated break-induced replication. Conclusions: The three described patients with 15q24 rearrangements have copy number variants at other loci and exhibit additional clinical features with a more severe phenotype than that observed in previously reported patients with isolated 15q24 rearrangements, suggesting that the genomic mutational load may contribute to the phenotypic severity and variability in patients with 15q24 rearrangements. Genet Med 2010:12(9):573-586.

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Section: Discussionmentioning

confidence: 99%

Deletion and duplication of 15q24: Molecular mechanisms and potential modification by additional copy number variants

El‐Hattab

Zhang

Maxim

et al. 2010

Genetics in Medicine

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“… + +/+ + Dahoun-Hadorn and Bretton-Chappuis, [ 11 ] 2q35-2qter Inv dup De novo +* +/+ + Romain et al, [ 12 ] 2q33.1-2q35 Dir dup De novo + +/− + Fritz et al, [ 13 ] 2q35-2q37.1 Ins 17q25 De novo + +/+ + Seidahmed et al, [ 14 ] 2q32-2q37 Inv dup De novo + +/+ + Angle et al, [ 15 ] 2q34-2qter Inv dup Mat. + +/+ + Bonaglia et al, [ 16 ] 2q33-2q37 Inv dup De novo + +/+ + Bird and Mascarello, [ 17 ] 2q33.1-2q37.1 Dir dup De novo + +/+ + Slavotinek et al, [ 18 ] 2q33-2q37.3 Inv dup De novo + +/− + Hermsen et al, [ 4 ] 2q35-q37.3 Trans dir dup De novo + +/− + Pietrzak et al, [ 19 ] 2q35-q36 Sup r De novo + +/− + Ins, insertion; Inv dup, inverted duplication; Dir dup, direct duplication; Trans dir dup, translocation direct duplication; Sup r, supernume...…”

Section: Case Presentationmentioning

confidence: 99%

Partial trisomy 2q33.3-q37.3 in a patient with an inverted duplicated neocentric marker chromosome

Peng

Zhang

et al. 2015

Mol Cytogenet

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BackgroundIncreasing number of cases with small supernumerary marker chromosomes (sSMCs) without centromeric DNA and dozens of cases with trisomy 2q3 have been reported in recent years. However, cases of simultaneous sSMC and partial trisomy of chromosome 2q have been rarely described.ResultsWe report the case of a young girl patient with growth retardation and mild facial features due to a partial trisomy 2q33.3-37.3. The 34.3 Mb-duplication of the 2q33.3 to q37.3 region found in the patient constituted a supernumerary inverted duplicated neocentric marker chromosome.ConclusionsThis is the first case of a patient with partial trisomy 2q33.3-37.3 presenting an inverted duplicated neocentric marker chromosome. Based on the case, this study will help further understanding the genotype/phenotype correlations of partial 2q3 duplication and exploring the relationship between neocentric sSMC and human diseases.

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“…Pure trisomy 2q is uncommon, and some reports compare patients with varying sizes of affected chromosomal segments [5]. Consequently, attributing abnormalities related to trisomy 2q poses a significant challenge [6]. A distinction is commonly drawn between a more proximal and a distal trisomy 2q phenotype [7].…”

Section: Introductionmentioning

confidence: 99%

A Rare Case of Concurrent 2q34q36 Duplication and 2q37 Deletion in a Neonate with Syndromic Features

Riviello,

Daponte,

Ponzi

et al. 2023

Genes

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Large-scale genomic structural variations can have significant clinical implications, depending on the specific altered genomic region. Briefly, 2q37 microdeletion syndrome is a prevalent subtelomeric deletion disorder characterized by variable-sized deletions. Affected patients exhibit a wide range of clinical manifestations, including short stature, facial dysmorphism, and features of autism spectrum disorder, among others. Conversely, isolated duplications of proximal chromosome 2q are rare and lack a distinct phenotype. In this report, we provide an extensive molecular analysis of a 15-day-old newborn referred for syndromic features. Our analysis reveals an 8.5 Mb microdeletion at 2q37.1, which extends to the telomere, in conjunction with an 8.6 Mb interstitial microduplication at 2q34q36.1. Our findings underscore the prominence of 2q37 terminal deletions as commonly reported genomic anomalies. We compare our patient’s phenotype with previously reported cases in the literature to contribute to a more refined classification of 2q37 microdeletion syndrome and assess the potential impact of 2q34q36.1 microduplication. We also investigate multiple hypotheses to clarify the genetic mechanisms responsible for the observed genomic rearrangement.

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Chromosome 2q duplications: Case report of a de novo interstitial duplication and review of the literature

Cited by 26 publications

References 30 publications

Deletion and duplication of 15q24: Molecular mechanisms and potential modification by additional copy number variants

Deletion and duplication of 15q24: Molecular mechanisms and potential modification by additional copy number variants

Partial trisomy 2q33.3-q37.3 in a patient with an inverted duplicated neocentric marker chromosome

A Rare Case of Concurrent 2q34q36 Duplication and 2q37 Deletion in a Neonate with Syndromic Features

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