AIMS: To determine the prevalence of submicroscopic deletions within chromosome band 22q11 in infants with significant heart disease and compare this with the prevalence of other chromosomal abnormalities causing significant heart disease. To determine a minimum prevalence of deletions within chromosome band 22q11 in infants in the general population. METHODS: Chromosome analysis was performed on samples from infants born in the former UK Northern Health Region in 1994 and 1995 who either had significant heart disease or who were suspected to have a chromosome band 22q11 deletion following referral to the Northern Genetics Service. Significant heart disease was defined as major structural malformation or cases where invasive investigation or intervention was required in infancy. RESULTS: Chromosome band 22q11 deletions were identified in nine infants in a population of 69,129 livebirths, giving a minimum prevalence of 13 per 100,000 (95% confidence interval 4.5 to 21.5). Six cases had significant heart disease, one of whom died before diagnosis. In the same population there were 53 cases of trisomy 21, 15 of whom had significant heart disease. CONCLUSION: The most common chromosomal cause of significant congenital heart disease remains trisomy 21, while the second most common chromosomal cause is deletion in chromosome band 22q11.
AIMS: To determine the prevalence of submicroscopic deletions within chromosome band 22q11 in infants with significant heart disease and compare this with the prevalence of other chromosomal abnormalities causing significant heart disease. To determine a minimum prevalence of deletions within chromosome band 22q11 in infants in the general population. METHODS: Chromosome analysis was performed on samples from infants born in the former UK Northern Health Region in 1994 and 1995 who either had significant heart disease or who were suspected to have a chromosome band 22q11 deletion following referral to the Northern Genetics Service. Significant heart disease was defined as major structural malformation or cases where invasive investigation or intervention was required in infancy. RESULTS: Chromosome band 22q11 deletions were identified in nine infants in a population of 69,129 livebirths, giving a minimum prevalence of 13 per 100,000 (95% confidence interval 4.5 to 21.5). Six cases had significant heart disease, one of whom died before diagnosis. In the same population there were 53 cases of trisomy 21, 15 of whom had significant heart disease. CONCLUSION: The most common chromosomal cause of significant congenital heart disease remains trisomy 21, while the second most common chromosomal cause is deletion in chromosome band 22q11.
Authors: Y Mehraein; C F Wippermann; I Michel-Behnke; T K Nhan Ngo; U Hillig; M Giersberg; U Aulepp; H Barth; B Fritz; H Rehder Journal: Hum Genet Date: 1997-04 Impact factor: 4.132
Authors: S A Webber; E Hatchwell; J C Barber; P E Daubeney; J A Crolla; A P Salmon; B R Keeton; I K Temple; N R Dennis Journal: J Pediatr Date: 1996-07 Impact factor: 4.406
Authors: F Amati; A Mari; M C Digilio; R Mingarelli; B Marino; A Giannotti; G Novelli; B Dallapiccola Journal: Hum Genet Date: 1995-05 Impact factor: 4.132
Authors: D Kelly; R Goldberg; D Wilson; E Lindsay; A Carey; J Goodship; J Burn; I Cross; R J Shprintzen; P J Scambler Journal: Am J Med Genet Date: 1993-02-01
Authors: Anne S Bassett; Gregory Costain; Wai Lun Alan Fung; Kathryn J Russell; Laura Pierce; Ronak Kapadia; Ronald F Carter; Eva W C Chow; Pamela J Forsythe Journal: J Psychiatr Res Date: 2010-11 Impact factor: 4.791
Authors: Mechteld L C Hoogendoorn; Jacob A S Vorstman; Gholam R Jalali; Jean-Paul Selten; Richard J Sinke; Beverly S Emanuel; René S Kahn Journal: Schizophr Res Date: 2007-10-26 Impact factor: 4.939
Authors: A S Bassett; E W C Chow; J Husted; K A Hodgkinson; E Oechslin; L Harris; C Silversides Journal: J Med Genet Date: 2009-02-25 Impact factor: 6.318
Authors: Anne S Bassett; Eva W C Chow; Janice Husted; Rosanna Weksberg; Oana Caluseriu; Gary D Webb; Michael A Gatzoulis Journal: Am J Med Genet A Date: 2005-11-01 Impact factor: 2.802
Authors: George Toth; Claudia B Zraly; Tricia L Thomson; Carolyn Jones; Shawn Lapetino; Jonathan Muraskas; Jiwang Zhang; Andrew K Dingwall Journal: Genes Chromosomes Cancer Date: 2011-03-15 Impact factor: 5.006
Authors: M Gudbrandsen; E Daly; C M Murphy; R H Wichers; V Stoencheva; E Perry; D Andrews; C E Blackmore; M Rogdaki; L Kushan; C E Bearden; D G M Murphy; M C Craig; C Ecker Journal: Cereb Cortex Date: 2019-07-22 Impact factor: 5.357