Saethre-Chotzen syndrome with familial translocation at chromosome 7p22.

作者信息

Reid C S, McMorrow L E, McDonald-McGinn D M, Grace K J, Ramos F J, Zackai E H, Cohen M M, Jabs E W

机构信息

Division of Pediatric Genetics, University of Medicine and Dentistry of New Jersey-Robert Wood Johnson Medical School, Camden.

出版信息

Am J Med Genet. 1993 Oct 1;47(5):637-9. doi: 10.1002/ajmg.1320470511.

Chromosome analysis of a male infant and his mother with Saethre-Chotzen syndrome demonstrated an apparently balanced translocation, t(2;7)(p23;p22). This association lends support to localization of the gene for Saethre-Chotzen syndrome to the 7p2 region and supports further involvement of gene(s) in the 7p22 region.