Phenotypic expansion of the supernumerary derivative (22) chromosome syndrome: VACTERL and Hirschsprung's disease

Prieto, Juan Carlos; Garcia, Nilda M.; Elder, F.F.B.; Zinn, Andrew R.; Baker, Linda A.

doi:10.1016/j.jpedsurg.2007.07.030

Cited by 23 publications

(19 citation statements)

References 25 publications

(32 reference statements)

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“…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%

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

et al. 2013

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Section: Introductionmentioning

confidence: 99%

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

et al. 2013

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“…Surprisingly, neither coloboma nor TAPVR seems to have been associated with der(22) syndrome (see Table I). Rarer clinical phenotypes, such as anorectal malformations reminiscent of VACTERL syndrome, and hemifacial microsomia, Goldenhar-like, have been reported [McDermid et al, 2002;Balci et al, 2006;Prieto et al, 2007]. Clear delineation of the phenotypes associated with rearrangements of 22q11.2 cannot be accomplished.…”

Section: Discussionmentioning

confidence: 99%

Partial trisomy of chromosome 22 resulting from a supernumerary marker chromosome 22 in a child with features of cat eye syndrome

Bélien

Gérard-Blanluet

Serero

et al. 2008

American J of Med Genetics Pt A

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Small supernumerary marker chromosomes are present in about 0.05% of the human population. In approximately 28% of persons with these markers (excluding the approximately 60% derived from one of the acrocentric chromosomes), an abnormal phenotype is observed. We report on a 3-month-old girl with intrauterine growth retardation, craniofacial features, hypotonia, partial coloboma of iris and total anomalous pulmonary venous return. Cytogenetic analysis showed the presence of a supernumerary marker chromosome, identified by fluorescence in situ hybridization as part of chromosome 22, and conferring a proximal partial trisomy 22q22.21, not encompassing the DiGeorge critical region (RP11-154H4 + , TBX1-). This observation adds new information relevant to cat eye syndrome and partial trisomy of 22q.

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“…To date, cytogenetic and molecular analyses have revealed chromosomal (micro-)aberrations in at least 11 patients with the full clinical picture of the VATER/VAC-TERL association. These include: (i) deletions of 5q11.2 [de Jong et al, 2010], 6q [McNeal et al, 1977], 7q35qter [Zen et al, 2010], distal 13q [Walsh et al, 2001], and 20q13.33 [Solomon et al, 2011]; (ii) duplication of 9q [Aynaci et al, 1996] and 22q11.21 [Schramm et al, 2011]; (iii) supernumerary der(22) syndrome [Prieto et al, 2007]; (iv) mosaicism for supernumerary ring chromosome 12 [Cinti et al, 2001] or 18 [van der Veken et al, 2010], and (v) partial monosomy 16p13.3pter/partial trisomy 16q22qter [Yamada et al, 2009].…”

Section: Chromosomal Anomalies and Single Gene Mutationsmentioning

confidence: 99%

VATER/VACTERL Association: Evidence for the Role of Genetic Factors

Reutter¹,

Ludwig

2012

Mol Syndromol

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The VATER/VACTERL association is typically defined by the presence of at least 3 of the following congenital malformations: Vertebral anomalies, Anal atresia, Cardiac malformations, Tracheo-Esophageal fistula, Renal anomalies, and Limb abnormalities. The involvement of genetic factors in the development of this rare association is suggested by reports of familial occurrence, the increased prevalence of component features among first-degree relatives of affected individuals, high concordance rates among monozygotic twins, chromosomal (micro-)aberrations or single gene mutations in individuals with the VATER/VACTERL phenotype, as well as murine knock-out models. Despite substantial efforts over the past decade, the genetic etiology of the VATER/VACTERL association in most instances remains elusive. The application of new genomic technologies such as high-resolution copy number variation studies or next-generation exome sequencing might lead to the identification of some of these causes.

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Phenotypic expansion of the supernumerary derivative (22) chromosome syndrome: VACTERL and Hirschsprung's disease

Cited by 23 publications

References 25 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

Partial trisomy of chromosome 22 resulting from a supernumerary marker chromosome 22 in a child with features of cat eye syndrome

VATER/VACTERL Association: Evidence for the Role of Genetic Factors

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