The fragile X syndrome: first family reported in Malaysia
Ten, S.K.; Chin, Y.M.; Jamilatul Noor, M.B.; Hassan, K.
Singapore Medical Journal 26(4-5): 372-378
1985
ISSN/ISBN: 0037-5675 PMID: 4071092 Document Number: 244167
An Indian family with all 3 sons having the fragile X syndrome is reported. The frequency of fragile X cells observed ranged from 4-16%. The phenotypically normal mother, although an obligate carrier, did not express any fragile X chromosomes in her lymphocyte cultures. The range of mental retardation in affected hemizygous males and heterozygous females as well as the significance of the fragile X chromosome in prenatal diagnosis are discussed.