Chromosome 22q11 microdeletion and congenital heart disease - a survey in a paediatric population

Dan, Yong; Booth, Philip; Baruni, J.; Massie, D.; Stephen, G S; Couzin, D A; Dean, John

doi:10.1007/s004310051148

Cited by 14 publications

(7 citation statements)

References 20 publications

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“…22q11DS was also an important cause, verified in 2% of the patients, all identified only by FISH analysis. This frequency was concordant with previous reports by Goodship et al 1998, Yong et al 1999, Borgmann et al 1999, and Botto et al 2003, that detected values between 1% and 6% ( P > 0.05). These studies have investigated mainly patients with CHDs that needed invasive investigation and surgical intervention.…”

Section: Discussionsupporting

confidence: 93%

22q11.2 deletion syndrome in patients admitted to a cardiac pediatric intensive care unit in Brazil

Rosa

Pilla²,

Pereira

et al. 2008

American J of Med Genetics Pt A

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The 22q11.2 deletion syndrome (22q11DS) is one of the most recognizable causes of congenital heart defects (CHDs), but the frequency varies in non-selected populations. The purpose of this study was to determine the incidence and clinical features of patients with CHD and 22q11DS admitted to a pediatric cardiology intensive care unit in Brazil. In a prospective study, we evaluated a consecutive series of 207 patients with a CHD following a clinical protocol and cytogenetic analysis by high resolution karyotype and fluorescent in situ hybridization (FISH). 22q11DS was identified in four patients (2%), a frequency similar to studies that evaluated subjects with major CHDs in other countries. Despite this similarity, we believe that the low rate of prenatal identification of CHDs and the limited access of these patients to appropriate diagnosis and care, which occur in our region, could have had an influence on this frequency. It is possible that 22q11DS patients with a severe CHD could have died before having a chance to access a tertiary hospital, leading to an underestimate of its frequency.

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Section: Discussionsupporting

confidence: 93%

22q11.2 deletion syndrome in patients admitted to a cardiac pediatric intensive care unit in Brazil

Rosa

Pilla²,

Pereira

et al. 2008

American J of Med Genetics Pt A

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“…Our study indicated dysmorphic nature of discreet to strong expression, which is identical to the results of other researchers (Table 1, 2) [25,17,26]. In newborns with microdeletions, problems with milk suckling and regurgitation, associated with palatopharyngeal insufficiency, are often observed.…”

Section: Discussionsupporting

confidence: 91%

Frequency of 22q11.2 microdeletion in children with congenital heart defects in western poland

et al. 2010

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BackgroundThe 22q11.2 microdeletion syndrome (22q11.2 deletion syndrome -22q11.2DS) refers to congenital abnormalities, including primarily heart defects and facial dysmorphy, thymic hypoplasia, cleft palate and hypocalcaemia. Microdeletion within chromosomal region 22q11.2 constitutes the molecular basis of this syndrome. The 22q11.2 microdeletion syndrome occurs in 1/4000 births. The aim of this study was to determine the frequency of 22q11.2 microdeletion in 87 children suffering from a congenital heart defect (conotruncal or non-conotruncal) coexisting with at least one additional 22q11.2DS feature and to carry out 22q11.2 microdeletion testing of the deleted children's parents. We also attempted to identify the most frequent heart defects in both groups and phenotypic traits of patients with microdeletion to determine selection criteria for at risk patients.MethodsThe analysis of microdeletions was conducted using fluorescence in situ hybridization (FISH) on metaphase chromosomes and interphase nuclei isolated from venous peripheral blood cultures. A molecular probe (Tuple) specific to the HIRA (TUPLE1, DGCR1) region at 22q11 was used for the hybridisation.ResultsMicrodeletions of 22q11.2 region were detected in 13 children with a congenital heart defect (14.94% of the examined group). Microdeletion of 22q11.2 occurred in 20% and 11.54% of the conotruncal and non-conotruncal groups respectively. Tetralogy of Fallot was the most frequent heart defect in the first group of children with 22q11.2 microdeletion, while ventricular septal defect and atrial septal defect/ventricular septal defect were most frequent in the second group. The microdeletion was also detected in one of the parents of the deleted child (6.25%) without congenital heart defect, but with slight dysmorphism. In the remaining children, 22q11.2 microdeletion originated de novo.ConclusionsPatients with 22q11.2DS exhibit wide spectrum of phenotypic characteristics, ranging from discreet to quite strong. The deletion was inherited by one child. Our study suggests that screening for 22q11.2 microdeletion should be performed in children with conotruncal and non-conotruncal heart defects and with at least one typical feature of 22q11.2DS as well as in the deleted children's parents.

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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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Chromosome 22q11 microdeletion and congenital heart disease - a survey in a paediatric population

Abstract: Microdeletion of chromosome 22q11 detected by probe D22S75 is rare in this consecutive series of patients with structural congenital heart disease.

Cited by 14 publications

References 20 publications

22q11.2 deletion syndrome in patients admitted to a cardiac pediatric intensive care unit in Brazil

22q11.2 deletion syndrome in patients admitted to a cardiac pediatric intensive care unit in Brazil

Frequency of 22q11.2 microdeletion in children with congenital heart defects in western poland

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

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