Browsing by Author "Bhattacharya, Raktima"
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Item Morquio-B syndrome (MPS-IV B) associated with beta-galactosidase deficiency in two siblings.(2002-01-06) Sheth, Jayesh J; Sheth, Frenny J; Bhattacharya, RaktimaIn the present article we describe two cases with Morquio-B syndrome characterized by beta-galactosidase deficiency in a Muslim family. They were found to have skeletal dysplasia, short stature and short trunk dwarfism with undetectable level of beta-galactosidase in leucocytes. Probands' sister who had no clinical signs of mucopolysaccharidosis was investigated and found to have normal levels of the enzyme. Mother was found to have a deficient activity of beta-galactosidase and father was not available for the study. Since mother was pregnant, prenatal study from chorionic cells was carried out to investigate beta-galactosidase activity in the chorionic villus. An intermediate level of beta-galactosidase activity was found in the chorionic villus cells suggesting a carrier status. The diversity and rarity of the study makes it worth presenting.Item Prenatal diagnosis of tay-sachs b1 variant in a maharashtrian family.(2002-07-31) Sheth, Jayesh; Bhattacharya, Raktima; Sheth, Frenny