法洛四联症中的22号染色体q11微缺失
Chromosome 22q11 microdeletions in tetralogy of Fallot.
作者信息
Trainer A H, Morrison N, Dunlop A, Wilson N, Tolmie J
机构信息
Royal Hospital For Sick Children, Glasgow, Duncan Guthrie Institute of Medical Genetics.
出版信息
Arch Dis Child. 1996 Jan;74(1):62-3. doi: 10.1136/adc.74.1.62.
Chromosome 22q11 fluorescence in situ hybridisation (FISH) studies were performed on 33 consecutive individuals attending a paediatric cardiology clinic with tetralogy of Fallot. Seven children had 22q11 microdeletions but only four had other clinical features associated with the newly recognised chromosome 22 deletion syndrome (CATCH 22). Chromosome 22q11 FISH studies should therefore be performed on all patients with tetralogy of Fallot.
对33名连续就诊于儿科心脏病诊所的法洛四联症患者进行了22号染色体q11区域荧光原位杂交（FISH）研究。7名儿童存在22q11微缺失，但只有4名具有与新认识的22号染色体缺失综合征（CATCH 22）相关的其他临床特征。因此，应对所有法洛四联症患者进行22号染色体q11 FISH研究。
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