MILLER-DIEKER SYNDROME RESULTING FROM REARRANGEMENT OF A FAMILIAL CHROMOSOME-17 INVERSION DETECTED BY FLUORESCENCE IN-SITU HYBRIDIZATION

We report a case of Miller-Dieker syndrome (MDS) owing to an unbalance d rearrangement of a familial pericentric inversion of chromosome 17 ( inv(17) (p13.3q25.1)). In addition to Lissencephaly and the facial fea tures of MDS, the affected child had other congenital malformations co nsistent with distal 17q duplication. Initial cytogenetic analysis fai led to show any abnormality and fluorescence in situ hybridisation (FI SH) studies confirmed the 17p deletion in the proband and identified t he chromosome 17 inversion in his mother. FISH studies were performed in other relatives and enabled first trimester prenatal diagnosis by c horionic villus sampling in a subsequent pregnancy of the proband's mo ther. These findings underline the value of FISH in the investigation of MDS families.