Tetralogy of Fallot (TF) is a congenital conotruncal heart defect commonly found in DiGeorge (DGS) and velo-cardio-facial (VCFS) syndromes. The deletion of chromosome 22q11 (de122q11) is a well established cause of DGS and VCFS, and it has been demonstrated also in sporadic or familial cases of TF. In order to investigate the prevalence of de122q11 in patients with TF, we analyzed the DNA of 137 consecutive patients with syndromic and isolated Tf, using the HD7k probe, which detects hemizygosity for the D22S134 locus. De122q11 has been detected in 11/26 (42%) syndromic patients. Evidence for hemizygosity was obtained in all patients with DGS and in 8/15 patients with VCFS. None of the 107 patients with isolated TF had de122q11, Our experience suggests that children with TF and de122q11 always present major or minor extracardiac anomalies. These features, including subtle facial dysmorphisms, should be checked routinely in patients with TF and other conotruncal heart defects.

Amati, F., Mari, A., Digilio, M.c., Mingarelli, R., Marino, B., Giannotti, A., et al. (1995). 22q11 deletions in isolated and syndromic patients with tetralogy of Fallot. HUMAN GENETICS, 95(5), 479-482.

22q11 deletions in isolated and syndromic patients with tetralogy of Fallot

AMATI, FRANCESCA;NOVELLI, GIUSEPPE;
1995-01-01

Abstract

Tetralogy of Fallot (TF) is a congenital conotruncal heart defect commonly found in DiGeorge (DGS) and velo-cardio-facial (VCFS) syndromes. The deletion of chromosome 22q11 (de122q11) is a well established cause of DGS and VCFS, and it has been demonstrated also in sporadic or familial cases of TF. In order to investigate the prevalence of de122q11 in patients with TF, we analyzed the DNA of 137 consecutive patients with syndromic and isolated Tf, using the HD7k probe, which detects hemizygosity for the D22S134 locus. De122q11 has been detected in 11/26 (42%) syndromic patients. Evidence for hemizygosity was obtained in all patients with DGS and in 8/15 patients with VCFS. None of the 107 patients with isolated TF had de122q11, Our experience suggests that children with TF and de122q11 always present major or minor extracardiac anomalies. These features, including subtle facial dysmorphisms, should be checked routinely in patients with TF and other conotruncal heart defects.
1995
Pubblicato
Rilevanza internazionale
Articolo
Sì, ma tipo non specificato
Settore MED/03 - GENETICA MEDICA
English
Con Impact Factor ISI
adolescent; article; child; chromosome 22q; chromosome deletion; digeorge syndrome; fallot tetralogy; familial disease; female; heart septum defect; human; infant; major clinical study; male; newborn; priority journal; Adolescent; Blotting, Southern; Child; Child, Preschool; Chromosome Aberrations; Chromosome Deletion; Chromosomes, Human, Pair 22; DNA; DNA Probes; Female; Human; In Situ Hybridization, Fluorescence; Infant; Infant, Newborn; Male; Prevalence; Support, Non-U.S. Gov't; Syndrome; Tetralogy of Fallot
Amati, F., Mari, A., Digilio, M.c., Mingarelli, R., Marino, B., Giannotti, A., et al. (1995). 22q11 deletions in isolated and syndromic patients with tetralogy of Fallot. HUMAN GENETICS, 95(5), 479-482.
Amati, F; Mari, A; Digilio, Mc; Mingarelli, R; Marino, B; Giannotti, A; Novelli, G; Dallapiccola, B
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Utilizza questo identificativo per citare o creare un link a questo documento: https://hdl.handle.net/2108/49664
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