Chromosome 22q11 microdeletions in tetralogy of Fallot.

Abstract

Chromosome 22ql1 fluorescence in situ hybridisation (FISH) studies were performed on 33 consecutive individuals attending a paediatric cardiology clinic with tetralogy of Fallot. Seven children had 22qll microdeletions but only four had other clinical features associated with the newly recognised chromosome 22 deletion syndrome (CATCH 22). Chromosome 22qll FISH studies should therefore be performed on all patients with tetralogy of Fallot. (Arch Dis Child 1996; 74: 62 63)

NKX2.5 Mutations in Patients With Tetralogy of Fallot

“…1 Approximately 15% of patients with TOF have a deletion of chromosome 22q11, [2][3][4][5][6] and nearly 7% of TOF patients have trisomy 21 (Down syndrome). 7 TOF patients with Alagille syndrome have mutations in JAG1.…”

22q11.2 microdeletions in adults with familial tetralogy of Fallot

“…If all types of TOF are included, the incidence of microdeletions varies between 8.0% and 26.5%. 17,18,[21][22][23][24] When patients with pulmonary atresia or absent pulmonary valve syndrome are excluded, the incidence varies between 4.3% and 21.2%. 17,18,[22][23][24] In these reports, most patients were evaluated in infancy or early childhood.…”

“…[13][14][15] The phenotype associated with 22q11.2 microdeletions may be subtle and difficult to detect, particularly in the neonatal period. 22q11.2 microdeletions have been reported in nonsyndromic patients with isolated conotruncal cardiac malformations, 16,17 and occasionally, the noncardiac 22q11.2 phenotype of patients with TOF is not detected until after the molecular diagnosis has been made. 18 Of the conotruncal malformations, TOF is by far the most common, occurring in roughly one in 3000 live births.…”

Exclusion of chromosomal abnormalities and microdeletions 22q11 and 10p13 in algerian patients with isolated conotruncal malformation

“…The majority of the bearing patients of the syndrome of Di George (70-90 %) or of the syndrome VCF introduce a microdeletion of identical size about 3 Mb in the region 22q11.2 [8,22]. This last is also linked to strongly variable phenotypes defined by different cardiac insulated pathologies such as transposition of the great arteries [23], tetralogy of Fallot [24], and pulmonary atresia [25]. However, according to different reports the proportion of congenital heart disorders not isolated linked with this microdeletion vary between 0.9-2 % [26,24] and 20-50 % [14].…”

“…This last is also linked to strongly variable phenotypes defined by different cardiac insulated pathologies such as transposition of the great arteries [23], tetralogy of Fallot [24], and pulmonary atresia [25]. However, according to different reports the proportion of congenital heart disorders not isolated linked with this microdeletion vary between 0.9-2 % [26,24] and 20-50 % [14]. The microdeletion reduced in 1,5 Mb doesn't implicate an intermediate phenotype; the correlation genotype-phenotype is therefore difficult to establish [27].…”