The incidence of a deletion in chromosome 22Q11 in sporadic and familial conotruncal heart disease

Devriendt, K.; Eyskens, Bénédicte; Swillen, Ann; Dumoulin, M; Gewillig, M.; Fryns, J. P.

doi:10.1007/s004310050477

Cited by 4 publications

(6 citation statements)

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“…A number of studies have investigated the frequency of del22q11 in patients with CTHDs. In large series of CTHD patients, the reported prevalence of the 22q11 deletion has ranged from 12.8-17.8% [Devriendt et al, 1996;Goldmuntz et al, 1998;Marino et al, 1999]. The fact that many of our patients had multiple extracardiac anomalies may explain the high frequency of del22q11 (30%) in this group.…”

Section: Discussionmentioning

confidence: 66%

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Chromosome 22q11.2 deletion and phenotypic features in 30 patients with conotruncal heart defects

Derbent

Yılmaz

Baltacı

et al. 2002

American J of Med Genetics Pt A

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This report describes the dysmorphic features and frequency of 22q11.2 deletion (del22q11) in 30 Turkish patients with conotruncal heart defects (CTHDs). Fluorescence in situ hybridization (FISH) analysis revealed deletions in the 22q11.2 region in nine (30%) individuals. The CTHDs in this group were tetralogy of Fallot (four cases), double-outlet right ventricle (DORV) (two cases), transposition of great arteries (two cases), and ventricular septal defect (VSD) associated with other CTHDs (one case). The frequency of del22q11 in the study group was relatively high because many of the patients with dysmorphic findings also had cardiac anomalies involving the pulmonary artery, ductus arteriosus, or the aortic arch and its main branches. Twenty of the 30 patients exhibited several dysmorphic findings. Two of the nine patients with del22q11 exhibited no apparent dysmorphic features other than sacral dimple. Interestingly, one of the patients with del22q11 had a phenotypic appearance similar to that seen in oculo-auriculo-vertebral spectrum (OAVS). This individual had left microtia, atresia of the external meatus, mandibular asymmetry, and peripheral facial nerve paralysis. His mental development was normal and there were no abnormalities on ophthalmological examination. The CTHDs in this patient were situs inversus dextrocardia, DORV, pulmonary stenosis, and VSD. Radiographs of this patient showed platybasia, complete fusion of C2-C3, and posterior fusion of the T1-T2 vertebrae. This particular case indicates that the phenotypic features of del22q11 and OAVS may overlap.

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Section: Discussionmentioning

confidence: 66%

“…TGA is not commonly seen in patients with del22q11 [Devriendt et al, 1996;Momma et al, 1996], but we decided to include patients with this type of CTHD since there have been some reported cases of this combination [Marble et al, 1998;Marino et al, 1999]. In fact, we found that two of our nine patients with del22q11 (cases M.B.…”

Section: Discussionmentioning

confidence: 86%

Chromosome 22q11.2 deletion and phenotypic features in 30 patients with conotruncal heart defects

Derbent

Yılmaz

Baltacı

et al. 2002

American J of Med Genetics Pt A

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Section: Discussionmentioning

confidence: 99%

Water in different poly(styrene sulfonic acid)‐grafted fluoropolymers

Walsby

Hietala

Maunu

et al. 2002

J of Applied Polymer Sci

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ABSTRACT:We investigated the water present in a series of radiation-grafted fluoropolymers with similar poly(styrene sulfonic acid) (PSSA) contents with the aim of determining the influence of the initial fluoropolymer. Radiationgrafted membranes were compared with Nafion 117 and 105. Sorption curves and differential scanning calorimetry thermograms showed that all the membranes contained the same number of water molecules tightly bound to the sulfonic acid groups; this water did not freeze. In radiationgrafted membranes, the content of freezing water absorbed from the liquid-phase water varied according to the swelling abilities of the membrane, which were dependent on the initial fluoropolymer. Larger pores accompanied high water uptakes and high conductivity. The amount of water absorbed from the vapor phase was similar for all radiationgrafted membranes with similar PSSA contents, irrespective of matrix material. Nafion membranes had higher conductivities at intermediate hydration levels, and the relaxation times measured by NMR were longer than for the radiationgrafted materials. This suggests that the channels for water and proton conduction are different in the two types of materials.

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“…In pediatric and adult patients, the diagnosis of del22q11.2 is uncommon in the context of isolated congenital heart defects (Borgmann et al, 1999;Devriendt et al, 1996;Fokstuen et al, 1998;Mehraein et al, 1997;Yong et al, 1999). The majority of affected patients present with syndromic features that lead to a clinical suspicion of the diagnosis.…”

Section: Discussionmentioning

confidence: 99%

Assessment of the thymus at echocardiography in fetuses at risk for 22q11.2 deletion

et al. 2002

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The incidence of a deletion in chromosome 22Q11 in sporadic and familial conotruncal heart disease

Cited by 4 publications

References 0 publications

Chromosome 22q11.2 deletion and phenotypic features in 30 patients with conotruncal heart defects

Chromosome 22q11.2 deletion and phenotypic features in 30 patients with conotruncal heart defects

Water in different poly(styrene sulfonic acid)‐grafted fluoropolymers

Assessment of the thymus at echocardiography in fetuses at risk for 22q11.2 deletion

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