MARTIN-BELL SYNDROME fra(X) (q28) IN A SRI LANKAN FAMILY
- 28 June 2008
- journal article
- research article
- Published by Wiley in Journal of Intellectual Disability Research
- Vol. 26 (4), 251-257
- https://doi.org/10.1111/j.1365-2788.1982.tb00152.x
Abstract
Martin-Bell syndrome was observed in a family with 6 mentally retarded males, born to 3 sisters who were of more than average intelligence. The males showed large ears and macrotestes, were delayed in their development and had speech retardation. Five were pleasant and cooperative, while 1 had severe temper tantrums. The fra(X)(q28) was observed in the 3 males cytogenetically examined and in 2 of the 3 female potential carriers who could be studied. It was expressed in 17-36% of the cells in the males cultured in 199 and in 5 and 39% in the 2 female carriers, studied under addition of methotrexate.This publication has 14 references indexed in Scilit:
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