Lissencephaly child showing FISH negative and mutation in DCX gene with normal parental genetic makeup.

Lissencephaly is a clinically and genetically heterogeneous malformation of the brain, leading to a severe disabling condition and seizures. The recent discovery of molecular techniques and identification of lissencephaly genes (LIS 1 and DCX) has allowed etiologic diagnosis of this disorder. We describe a patient with lissencephaly in whom fluorescence in situ hybridization and DCX mutation analysis determined etiologic diagnosis, allowing precise genetic counseling and providing prenatal diagnosis for the family.

Cytogenetics and Genetic Counseling of Patients in North India

This brief write-up is with reference to our 1-year (May 2003- May 2004) experience at the Department of Molecular Biology and Immunology at Indraprastha Apollo Hospitals, New Delhi. Cytogenetics of 60 patients with amenorrhoea, recurrent abortions, infertility, monosomy X, chromosome mosaics, pseudohermaphoditism and Downs syndrome was carried out. The importance of chromosome studies followed by genetic counseling is stressed in this present paper.