N. Matsumoto et al., ISOLATION OF BAC CLONES SPANNING THE XQ22.3 TRANSLOCATION BREAKPOINT IN A LISSENCEPHALY PATIENT WITH A DE-NOVO X-2 TRANSLOCATION, Journal of Medical Genetics, 35(10), 1998, pp. 829-832
X linked lissencephaly and subcortical band heterotopia (XLIS/SBH) is
a disorder of cortical development, which causes classical lissencepha
ly with severe mental retardation and epilepsy in hemizygous males and
SBH associated with milder mental retardation and epilepsy in heteroz
ygous females. Here we report the fine mapping of a breakpoint involve
d in a de novo X;autosomal balanced translocation (46,XX,t(X;2) (q22.3
;p25.1)) previously described in a female with classical lissencephaly
. We constructed a complete 490 kb BAC contig around the Xq22.3 breakp
oint with 11 novel STSs and isolated three BAC clones spanning the bre
akpoint. This mapping information and BAC contig will be useful in the
detailed characterisation of the XLIS gene and other contiguous genes
which may also be involved in brain development or function.