De novo duplication of 18p11.21–18q12.1 in a female with anorectal malformation

Schramm, Christian; Draaken, Markus; Bartels, Enrika; Boemers, Thomas M.; Schmiedeke, Eberhard; Grasshoff‐Derr, Sabine; Märzheuser, Stefanie; Hosie, Stuart; Holland‐Cunz, Stefan; Baudisch, Friederike; Priebe, Lutz; Hoffmann, Per; Zink, Alexander M.; Engels, Hartmut; Brockschmidt, Felix F.; Aretz, Stefan; Nöthen, Markus M.; Ludwig, Michael; Reutter, Heiko

doi:10.1002/ajmg.a.33820

Cited by 21 publications

(20 citation statements)

References 13 publications

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“…None of the patients used for array-based analysis has been reported in our previous studies. 15,16 To optimize for detection of de novo CNVs, we only included patients with a negative family history of the disease. Forty-one patients presented with three or more CFs of the VATER/VACTERL association, while six patients presented with only two, with or without further anomalies (VATER/VACTERL-like phenotype).…”

Section: Subjects and Dna Isolationmentioning

confidence: 99%

“…Forty-one patients presented with three or more CFs of the VATER/VACTERL association, while six patients presented with only two, with or without further anomalies (VATER/VACTERL-like phenotype). 1 For the mutation-sequencing analysis, an additional 59 patients with VATER/VACTERL association and 60 patients with VATER/-VACTERL-like phenotype recruited within Germany were added to the patient sample, of which 18 patients were previously described in Schramm et al 15,16 An additional 26 patients with VATER/ VACTERL association were recruited within the AGORA project and were added to the sample for the mutation-sequencing analysis. The AGORA project is run within the Netherlands and patients are being recruited by pediatric surgeons and clinical geneticists of the Radboud University, Nijmegen Medical Centre, Nijmegen, the Netherlands.…”

Section: Subjects and Dna Isolationmentioning

confidence: 99%

“…In accordance with this, previous studies have identified several de novo chromosomal microaberrations, which are likely to be disease causing. [5][6][7][8][9][10][11][12][13][14][15][16] However, none of these de novo chromosomal microaberrations has led to the identification of a disease-causing gene and the etiology in most cases is still unknown.…”

Section: Introductionmentioning

confidence: 99%

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De novo microduplications at 1q41, 2q37.3, and 8q24.3 in patients with VATER/VACTERL association

et al. 2013

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Section: Subjects and Dna Isolationmentioning

confidence: 99%

Section: Subjects and Dna Isolationmentioning

confidence: 99%

Section: Introductionmentioning

confidence: 99%

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De novo microduplications at 1q41, 2q37.3, and 8q24.3 in patients with VATER/VACTERL association

et al. 2013

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“…However, only 2 previous reports have described an association between ARM and another type of chromosome 18 aberration (isochromosome 18q [Chen et al, 1998]; duplication of 18p11.21-q12.1 [Schramm et al, 2011]). Chromosome 18 aberrations similar to that of the present patient have been described in 16 previous cases.…”

mentioning

confidence: 97%

“…Only 2 previous reports described an association between ARM and partial aneuploidy of chromosome 18 ( table 1 ). The first concerned a female patient carrying a de novo duplication of 18p11.21-q12.1 associated with ARM, patent ductus arteriosus and myopia [Schramm et al, 2011]. The second deals with a female fetus with isochromosome 18q and associated ARM, megacystis, and intra-uterine growth retardation [Chen et al, 1998].…”

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confidence: 99%

De novo Partial Trisomy 18p and Partial Monosomy 18q in a Patient with Anorectal Malformation

Bartels¹,

Draaken²,

Kazmierczak

et al. 2011

Cytogenet Genome Res

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Anorectal malformations (ARM) encompass a broad clinical spectrum which ranges from mild anal stenosis to severe anorectal anomalies such as complex cloacal malformations. The overall incidence of ARM is around 1 in every 2,500 live births. Although causative genes for a few syndromic forms have been identified, the molecular genetic background of most ARM remains unknown. The present report describes a patient with a de novo 13.2-Mb deletion of chromosome 18q22.3–qter and a 2.2-Mb de novo duplication of chromosomal region 18pter–p11.32 located at the telomeric end of chromosome 18q. The patient presented with ARM and the typical features of 18q– syndrome (De-Grouchy syndrome). The combination of a partial duplication of the short arm and a partial deletion of the long arm of chromosome 18 has been described in 16 previous cases. However, this is the first report of an association between this complex chromosomal rearrangement and ARM.

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The Molecular Genetics of Trisomy 18: Phenotype–Genotype Correlations

Peron

Carey

2014

Encyclopedia of Life Sciences

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The trisomy 18 syndrome can result from a full, mosaic, or partial trisomy 18. The main clinical findings of full trisomy 18 consist of prenatal and postnatal growth deficiency, characteristic facial features, clenched hands with overriding fingers and nail hypoplasia, short sternum, short hallux, major malformations, especially of the heart, and profound intellectual disability in the surviving older children. The phenotype of partial trisomy 18 is extremely variable. The aim of this article is to systematically review the scientific literature on patients with partial trisomy 18 in order to identify regions of chromosome 18 that may be responsible for the specific clinical features of the trisomy 18 syndrome. We confirmed that trisomy of the short arm of chromosome 18 does not seem to cause the major features. However, we found candidate regions on the long arm of chromosome 18 for some of the characteristic clinical features, and thus a phenotypic map is proposed. Our findings confirm the hypothesis that single critical regions/candidate genes are likely to be responsible for specific characteristics of the syndrome, while a single critical region for the whole Edwards syndrome phenotype is unlikely to exist. Key Concepts: The phenotype of human chromosomal syndromes is comprised of the individual component manifestations of the condition. Using case descriptions of patients with partial trisomy of a segment of a chromosome, an investigator can potentially map the well‐defined and more specific phenotypic findings to a region of the chromosome. Narrowing a region allows for review of the known genes in the region and for hypothesising the causative gene(s) for the phenotype. The certainty in inferring a causative region or individual gene for a component manifestation depends on the specificity and consistency of occurrence of the individual feature. Correlations of phenotypes with genotypes can lead to detection of candidate genes which provide insight into disease mechanisms and ideally into the development of strategies for therapeutic intervention and prevention. The findings in this paper confirm the hypothesis that single critical regions/candidate genes are likely to be responsible for specific characteristics of the syndrome, while a single critical region for the whole Edwards syndrome phenotype is unlikely to exist.

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De novo duplication of 18p11.21–18q12.1 in a female with anorectal malformation

Cited by 21 publications

References 13 publications

De novo microduplications at 1q41, 2q37.3, and 8q24.3 in patients with VATER/VACTERL association

De novo microduplications at 1q41, 2q37.3, and 8q24.3 in patients with VATER/VACTERL association

De novo Partial Trisomy 18p and Partial Monosomy 18q in a Patient with Anorectal Malformation

The Molecular Genetics of Trisomy 18: Phenotype–Genotype Correlations

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