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1982•PEDIATRICSRequires access

Treatment of Fragile-X

Jean‐Paul Harpey

Open publisher page 22 citations

Abstract

In their commentary, "Fragile Sites on Chromosomes," (Pediatrics 69:121, 1982) Hecht, Glover, and Kaiser-Hecht stress the possibility of therapy in cases of fragile-X linked mental retardation. I have had the opportunity to treat three members of a family with the fragile-X chromosome. A 21-year-old man with mental retardation and psychotic symptoms, had macroorchidism and fragile-X site in 13% of his cells in 199 medium. A first therapeutic trial with folic acid, 10 mg, orally, per day and vitamin B12, 1 mg, orally, per day resulted in a great improvement of his comportment without change in the percentage of the fragile-X site.

About this research paper

What this paper is about

In their commentary, "Fragile Sites on Chromosomes," (Pediatrics 69:121, 1982) Hecht, Glover, and Kaiser-Hecht stress the possibility of therapy in cases of fragile-X linked mental retardation. I have had the opportunity to treat three members of a family with the fragile-X chromosome. A 21-year-old man with mental retardation and psychotic symptoms, had macroorchidism and fragile-X site in 13% of his cells in 199 medium. A first therapeutic trial with folic acid, 10 mg, orally, per day and vitamin B12, 1 mg, orally, per day resulted in a great improvement of his comportment without change in the percentage of the fragile-X site.

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OpenAlex reports 22 citations for this work. Citation counts describe recorded attention and do not establish research quality.

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Available abstract

In their commentary, "Fragile Sites on Chromosomes," (Pediatrics 69:121, 1982) Hecht, Glover, and Kaiser-Hecht stress the possibility of therapy in cases of fragile-X linked mental retardation. I have had the opportunity to treat three members of a family with the fragile-X chromosome. A 21-year-old man with mental retardation and psychotic symptoms, had macroorchidism and fragile-X site in 13% of his cells in 199 medium. A first therapeutic trial with folic acid, 10 mg, orally, per day and vitamin B12, 1 mg, orally, per day resulted in a great improvement of his comportment without change in the percentage of the fragile-X site.

Key concepts: Medicine, Chromosomal fragile site, Fragile x, Fragile X syndrome, Folic acid, Vitamin B12, Mentally retarded, Pediatrics

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