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. 1995 Oct;32(10):764–769. doi: 10.1136/jmg.32.10.764

General overgrowth in the fragile X syndrome: variability in the phenotypic expression of the FMR1 gene mutation

Bert B A de Vries 1, Hazel Robinson 2, Irene Stolte-Dijkstra 3, Cecil V Tjon Pian Gi 4, Piet F Dijkstra 5,6, Jaap van Doorn 7, Dicky J J Halley 1, Ben A Oostra 1, Gillian Turner 2, Martinus F Niermeijer 1
PMCID: PMC1051696  PMID: 8558551

Abstract

The fragile X syndrome, which often presents in childhood with overgrowth, may in some cases show some diagnostic overlap with classical Sotos syndrome. We describe four fragile X patients with general overgrowth, all of whom are from families with other affected relatives who show the classic Martin-Bell phenotype. Molecular studies of the FMR1 gene in all cases showed the typical full mutation as seen in males affected by the fragile X syndrome. Endocrine studies were unremarkable, except in one case where there were raised levels of insulin-like growth factor-I (IGF-I) and insulin-like growth factor binding protein-3 (IGFBP-3)

These cases illustrate the clinical variability of the fragile X syndrome and the necessity of performing analysis of the FMR1 gene in mentally retarded patients presenting with general overgrowth.

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Selected References

These references are in PubMed. This may not be the complete list of references from this article.

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