Fragile X syndrome without CCG amplification has an FMR1 deletion (original) (raw)

• Article
• Published: 01 August 1992
• E. Baker1,
• H. Robinson2,
• M.W. Partington3,
• B. Gross4,
• A. Manca4,
• B. Korn4,
• A. Poustka4,
• S. Yu1,
• G.R. Sutherland1 &
• …
• J.C. Mulley1

Nature Genetics volume 1, pages 341–344 (1992)Cite this article

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Abstract

We describe a patient with typical clinical features of the fragile X syndrome, but without cytogenetic expression of the fragile X or an amplified CCG trinucleotide repeat fragment. The patient has a previously uncharacterized submicroscopic deletion encompassing the CCG repeat, the entire FMR1 gene and about 2.5 megabases of flanking sequences. This finding confirms that the fragile X phenotype can exist, without amplification of the CCG repeat or cytogenetic expression of the fragile X, and that fragile X syndrome is a genetically homogeneous disorder involving FMR1. We also found random X–inactivation in the mother of the patient who was shown to be a carrier of this deletion.

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Authors and Affiliations

1. Department of Cytogenetics and Molecular Genetics, Adelaide Children's Hospital, North Adelaide, South Australia, 5006, Australia
   A.K. Gedeon, E. Baker, S. Yu, G.R. Sutherland & J.C. Mulley
2. Department of Medical Genetics, Prince of Wales Children's Hospital, Randwick, New South Wales, 2031, Australia
   H. Robinson
3. Regional Medical Genetics Unit, Newcastle Western Suburbs Hospital, Waratah, New South Wales, 2298, Australia
   M.W. Partington
4. Institute of Cell and Tumour Biology, German Cancer Research Centre, Heidelberg, D–6900, Germany
   B. Gross, A. Manca, B. Korn & A. Poustka

Authors

1. A.K. Gedeon
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2. E. Baker
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3. H. Robinson
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4. M.W. Partington
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5. B. Gross
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6. A. Manca
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7. B. Korn
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8. A. Poustka
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9. S. Yu
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10. G.R. Sutherland
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11. J.C. Mulley
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Gedeon, A., Baker, E., Robinson, H. et al. Fragile X syndrome without CCG amplification has an FMR1 deletion.Nat Genet 1, 341–344 (1992). https://doi.org/10.1038/ng0892-341

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• Received: 24 April 1992
• Accepted: 01 June 1992
• Issue Date: 01 August 1992
• DOI: https://doi.org/10.1038/ng0892-341

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