A new locus for Seckel syndrome on chromosome 18p11.31-q11.2
A new locus for Seckel syndrome on chromosome 18p11.31-q11.2
复制标题
DOI：
10.1038/sj.ejhg.5200701
复制
发表时间：
2001-10-01
影响因子：
5.2
通讯作者：
Hertz, JM
中科院分区：
文献类型：
--
作者：
Borglum, AD;Balslev, T;Hertz, JM
Seckel syndrome (MIM 210600) is a rare autosomal recessive disorder with a heterogeneous appearance. Key features are growth retardation, microcephaly with mental retardation, and a characteristic 'bird-headed' facial appearance. We have performed a genome-wide linkage scan in a consanguineous family of Iraqi descent. By homozygosity mapping a new locus for the syndrome was assigned to a similar to 30 cM interval between markers D18S78 and D18S866 with a maximum multipoint lod score of 3.1, corresponding to a trans-centromeric region on chromosome 18p11.31-q11.2. This second locus for Seckel syndrome demonstrates genetic heterogeneity and brings us a step further towards molecular genetic delineation of this heterogeneous condition.
