Compound heterozygous female with fragile X syndrome

Mary G. Linden, Flora Tassone, Louise W. Gane, Jennifer L. Hills, Randi J Hagerman, Annette K. Taylor

Research output: Contribution to journalArticle

13 Scopus citations

Abstract

We report on a 15-year-old compound heterozygous young woman with fragile X syndrome who has a full mutation of 363 repeats on one X chromosome and a premutation of 103 repeats on the other X chromosome. As predicted, subsequent testing demonstrated that her father carries a premutation (98 repeats) as does her mother (146 repeats). There is only one previous report of a compound heterozygous female with fragile X syndrome. By quantitation of Southern blot signals, the activation ratio for the premutation (the proportion of the premutation on the active X chromosome) was determined to be 0.78. Immunocytochemistry of blood smears showed fragile X mental retardation-1 protein (FMRP) expression in 63.5% of lymphocytes. Cognitively, this woman is functioning in the mid-range of involvement for fragile X females. She attends regular classes and receives supplemental assistance for her learning disabilities. She experiences behavior characteristics typical of females with fragile X syndrome including severe shyness, anxiety, panic episodes, mood swings, and attention deficits. She has responded very well to appropriate treatment including fluoxetine for anxiety, methylphenidate for attentional problems, and educational therapy.

Original languageEnglish (US)
Pages (from-to)318-321
Number of pages4
JournalAmerican Journal of Medical Genetics
Volume83
Issue number4
DOIs
StatePublished - Apr 2 1999
Externally publishedYes

Keywords

  • Activation ratio
  • Compound heterozygote
  • FMRP
  • Fragile X syndrome
  • Full mutation
  • Mental retardation
  • Premutation

ASJC Scopus subject areas

  • Genetics(clinical)

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