Original Articles General Overgrowth Inthe Fragile X Syndrome
7646 Med Genet 1995;32:764-769 Original articles J Med Genet: first published as 10.1136/jmg.32.10.764 on 1 October 1995. Downloaded from General overgrowth in the fragile X syndrome: variability in the phenotypic expression of the FMR1 gene mutation Bert B A de Vries, Hazel Robinson, Irene Stolte-Dijkstra, Cecil V Tjon Pian Gi, Piet F Dijkstra, Jaap van Doom, Dicky J J Halley, Ben A Oostra, Gillian Turner, Martinus F Niermeijer Department of Clinical Genetics, University Hospital Dijkzigt and Erasmus Abstract In addition, a Sotos-like phenotype was re- University, The fragile X syndrome, which often pre- ported in 1986 in two fragile X boys featuring Rotterdam, The Netherlands sents in childhood with overgrowth, may in large size at birth, unusual length, large head L B A de Vries some cases show some diagnostic overlap circumference, and minor facial anomalies.'5 D J J Halley with classical Sotos syndrome. We de- Here we report clinical, endocrine, and DNA B A Oostra M F Niermeijer scribe four fragile X patients with general studies in four fragile X patients with over- overgrowth, all ofwhom are from families growth. Fragile X Department, with other affected relatives who show the Prince of Wales Hospital, classic Martin-Bell phenotype. Molecular Randwick, studies of the FMR1 gene in all cases Patients and methods NSW, Australia showed the typical full mutation as seen in Four mentally retarded males with phenotypic H Robinson males affected by the fragile X syndrome. features resembling Sotos syndrome were iden- G Turner Endocrine studies were unremarkable, ex- tified as fragile X positive either by cytogenetic Department of cept in one case where there were raised analysis (cases 1, 3, and 4) or by gene mutation Medical Genetics, levels ofinsulin-like growth factor-I (IGF- analysis (case 2) and are the subjects of this University of Groningen, I) and insulin-like growth factor binding report.
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