Hough C A, White B N, Holden J J
Department of Biology, Queen's University, Kingston, Ontario, Canada.
Am J Med Genet. 1995 Sep 11;58(3):277-81. doi: 10.1002/ajmg.1320580315.
The supernumerary bisatellited chromosome causing the "cat eye" syndrome (CES) is of chromosome 22 origin and consists of an inverted duplication of the 22pter-->22q11.2 region. To determine the extent of involvement of band q11.2 on the bisatellited chromosome, copy number assessment of sequences homologous to cloned lambda immunoglobulin (lambda Ig) gene region probes was carried out on DNA from individuals with CES using densitometric analysis of Southern blots. None of the 10 lambda Ig sequences studied was found in increased copy number in DNA from any of the 10 CES individuals tested, indicating that these sequences are not present on the supernumerary chromosome. The breakpoints involved in the generation of the bisatellited supernumerary chromosome associated with CES are therefore proximal to the lambda Ig gene region.
导致“猫眼”综合征（CES）的额外双随体染色体起源于22号染色体，由22pter→22q11.2区域的反向重复组成。为了确定双随体染色体上q11.2带的受累程度，使用Southern印迹的光密度分析，对患有CES的个体的DNA进行了与克隆的λ免疫球蛋白（λIg）基因区域探针同源的序列的拷贝数评估。在所研究的10个λIg序列中，在测试的10名CES个体的任何一个个体的DNA中均未发现拷贝数增加，这表明这些序列不存在于额外染色体上。因此，与CES相关的双随体额外染色体产生中涉及的断点位于λIg基因区域的近端。
