OBJECTIVES To analyze chromosomes in children with suspected genetic disorder and to categorize the chromosomal basis of genetic disorder. MATERIALS AND METHODS Thirty children were selected from the patients attending genetic clinic, Department of Pediatrics, B.P. Koirala Institute of Health Sciences presenting with dysmorphic feature, mental retardation, short stature, congenital malformati...

The finding of a supernumerary or marker chromosome in a karyotype poses difficulty in genetic counselling. The true incidence and significance of this chromosomal aberration is unknown in Malaysia. We report two patients who presented with supernumerary chromosomes in mosaic Turner syndrome.

Folate sensitive fragile site on chromosome 2q13 was detected in a female proband with mild hypertrichosis, negativism, speech disorder, and severe mental retardation. The same chromosomal aberration was also detected in her mother with normal phenotype. Spontaneous expression of fragile site on 2q13 was also observed.

Article history: Received on: 05/04/2015 Revised on: 11/05/2015 Accepted on: 24/05/2015 Available online: 27/06/2015 Background: Indian subcontinent is a vast repository of medicinal plants that are used in traditional medical treatments. Various indigenous systems such as Siddha, Ayurveda, Unani and Allopathy use several plant species to treat different ailments. Ayurveda includes diet and her...

A mutant has been isolated whose aberration severely restricts the ability of cells of Saccharomyces cerevisiae to take up S-adenosylmethionine. The mutation apparently also affects adenosylhomocysteine uptake, but not that of the S-adenosylmethionine moieties adenine, homocysteine, homoserine, or methionine, nor the sulfonium compound, S-methylmethionine. It is a single, chromosomal mutation w...