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Chromosome 10p13-14 and 22q11 deletion screening in 100 patients with isolated and syndromic conotruncal heart defects
  1. R Voigt1,
  2. M Maier-Weidmann2,
  3. P E Lange2,
  4. T Haaf1
  1. 1Max Planck Institute of Molecular Genetics, Ihnestrasse 73, 14195 Berlin, Germany
  2. 2German Heart Centre, Humboldt University, Augustenburger Platz 1, 13353 Berlin, Germany
  1. Correspondence to:
 Dr T Haaf, Institute of Human Genetics, Mainz University School of Medicine, Langenbeckstrasse 1, Bldg 601, 55131 Mainz, Germany;
 Haaf{at}humgen.klinik.uni-mainz.de

https://doi.org/10.1136/jmg.39.4.e16

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    Heart defects are among the most common congenital anomalies, occurring in approximately 1% of newborn populations.1 Conotruncal heart defects (CTHD), which account for 50-60% of all congenital heart malformations, are known to have a strong genetic component. They occur either as an isolated malformation or in association with extracardiac anomalies. In particular, CTHD constitute a cardinal component of branchial arch syndromes, such as DiGeorge syndrome (DGS), velocardiofacial syndrome (VCFS), and conotruncal anomaly-face syndrome (CTAFS). The wide phenotypic spectrum includes cardiac defects, abnormal facies, thymic hypoplasia or aplasia, cleft palate, and hypoparathyroidism.2, 3 The presence of a characteristic 3 Mb microdeletion on chromosome 22q11 in 70-90% of these patients indicates a common genetic aetiology.4, 5 Haploinsufficiency for the TbxI transcription factor in the critical region appears to be responsible for the aortic arch defects …

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