Miller-Dieker syndrome with microdeletion of chromosome 17p13.3: report of one case.

Miller-Dieker syndrome (MDS)consists of lissencephaly, characteristic craniofacial appearance and sometimes other birth defects. Since 1983, it has been shown that most cases of MDS are caused by deletion of chromosome 17p13.3. Herein, we present a case of MDS in which the patient had characteristic craniofacial appearance in addition to lissencephaly. Although routine chromosome study showed a normal karyotype, deletion of chromosome l7pI3.3 was suggested by high resolution GTG-banding and confirmed by FISH. About 36% of the cases reported by Dobyns had submicroscopic deletions of chromosome 17p13.3 in spite of normal karyotypes in routine chromosome studies. The high frequency of submicroscopic deletion in Dobyn’s cases and our present case strongly suggests that chromosomal studies, including high-resolution banding and molecular genetic approaches such as FISH, are mandatory whenever MDS is suspected in cases of lissencephaly with normal karyotypes in routine chromosomal work-up.