Journal of Intellectual Disability Research · 1981 · 98 citations · 4 references
Life SciencesGeneticsPediatricsCytogeneticsHuman GeneticsMedical GeneticsGenetic DisordersGenetic SyndromesMendelian DisordersNeurodevelopmental DisordersSex-linked InheritanceFragile X Inheritance
Seven members of the original family of sex-linked mental retardation reported by Martin and Bell in 1943 have been re-examined and five of them proved to carry a fragile X chromosome. Some also display the typical facial appearance associated with this anomaly, and some have macro-orchidism. It is proposed that the condition should be designated "The Martin-Bell syndrome."
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