Detecting 22q11.2 deletion in Chinese children with conotruncal heart defects and single nucleotide polymorphisms in the haploid <it>TBX1 </it>locus

• Main Authors: Xu Yue-Juan (Author), Wang Jian (Author), Xu Rang (Author), Zhao Peng-Jun (Author), Wang Xi-Ke (Author), Sun Heng-Juan (Author), Bao Li-Ming (Author), Shen Jie (Author), Fu Qi-Hua (Author), Li Fen (Author), Sun Kun (Author)
• Format: Book
• Published: BMC, 2011-12-01T00:00:00Z.
• Subjects: article
• Online Access: Connect to this object online.

<p>Abstract</p> <p>Background</p> <p>Conotruncal heart defects (CTDs) are present in 75-85% of patients suffering from the 22q11.2 deletion syndrome. To date, no consistent phenotype has been consistently correlated with the 22q11.2 deletions. Genetic studies have impli...