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The fragile X syndrome: first family reported in Malaysia

Ten SK 1 , Chin YM 2 , Jamilatul Noor MBP 3 , Hassan K 4

Affiliations 

  • 1 SK Ten, MSc. Geneticist, Cytogenetics Unit, Division of Haematology, Institute for Medical Research, Jalan Pahang, Kuala Lumpur, Malaysia
  • 2 YMChin, BSc (Hons). Geneticist, Cytogenetics Unit, Division of Haematology, Institute for Medical Research, Jalan Pahang, Kuala Lumpur, Malaysia
  • 3 MBPJami!a!ul Noor, BSe (Hons). Geneticist, Cytogenetics Unit, Division of Haematology, Institute for Medical Research, Jalan Pahang, Kuala Lumpur, Malaysia
  • 4 KHassan, MBBS, MRCP, MRC Path, DCP, DTM & H Head, Cytogenetics Unit, Division of Haematology, Institute for Medical Research, Jalan Pahang, Kuala Lumpur, Malaysia
Singapore Med J, 1985;26(4-5):372-8.
PMID: 4071092

Abstract

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 Iymphocyte 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.

* Title and MeSH Headings from MEDLINE®/PubMed®, a database of the U.S. National Library of Medicine.

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