Department of Human and Medical Genetics, Faculty of Medicine, Vilnius University, Santariškių 2, LT-08661 Vilnius, Lithuania Objective. Cleft lip with or without cleft palate (CLP) is a common congenital abnormality involving genetic and non-genetic factors in its etiology. Although many studies have been made to find the genetic pattern of this malformation, there is still no precise answer. ...

objective angelman syndrome (as) is a genetically determined syndrome that has a unique behavioral phenotype. this syndrome is described as jerky ataxia and an unusual happy facial expression with pathological laughter. severe mental retardation is a unique feature of the syndrome, together with microbrachycephaly and abnormal electroencephalographic findings with or without clinical seizures. ...

Ten cell lines were established from different biopsies from nine patients with small cell lung cancer (SCLC). These were established from métastasesin the marrow (7), breast (1), pleural fluid (1), and spinal cord (1) and had been in culture for periods varying from 1 to 11 months. All cell lines exhibited typical cytological features of SCLC, and produced neuron specific enolase. All lines e...

Inverted duplications with terminal deletions have been reported for an increasing number of chromosome ends. The best characterized and most frequent rearrangement reported involves the short arm of chromosome 8. It derives from non-allelic homologous recombination (NAHR) between two inverted LCRs (low copy repeats) of the olfactory receptor (OR) gene cluster during maternal meiosis. We report...

Partial deletion of the long arm of chromosome 7 is a common abnormality in the bone marrow cells of patients with myelodysplastic syndrome (MDS) or acute nonlymphocytic leukemia (ANLL). This study was undertaken to characterize the chromosome breakpoints in molecular terms and to determine if hemizygosity or submicroscopic deletions occur in patients without any cytogenetically detectable abno...