Abstract
Introduction. - Fragile X syndrome is the most commonly known inherited form of mental retardation. The intellectual abilities range from a normal IQ with learning disabilities to severe mental retardation. In males, there is a tendency for IQ decline in childhood. The purpose of this study was to correlate variations of the molecular cytosine guanine guanine (CGG) amplification in the fragile X mental retardation-1 (FMR-1) gene with the clinical findings, including IQ and physical features. Methods. - Full-scale IQ and cytogenetic results in 116 individuals with the FMR-1 mutation were studied. The IQ testing was performed with age-appropriate standardized tests. Physical features were summarized in a physical index score for each patient. The FMR-1 results were determined with the OX1.9 probe and the following system was used: P1 indicates premutation; P2, large premutation to small full mutation; P3, full mutation; and P4, mosaic. Results/Conclusions. - The findings showed that those females with a small insert in the P1 range had a significantly higher IQ than other heterozygotes (P2, P3, and P4 categories). P4 males had a significantly higher IQ than P2 or P3 males. In cross-sectional age comparisons, the slope of the IQ decline was greater in P2 males than in P4 or P3 males.
| Original language | English (US) |
|---|---|
| Pages (from-to) | 723-726 |
| Number of pages | 4 |
| Journal | American Journal of Diseases of Children |
| Volume | 147 |
| Issue number | 7 |
| State | Published - 1993 |
| Externally published | Yes |
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ASJC Scopus subject areas
- Pediatrics, Perinatology, and Child Health
Cite this
Molecular-clinical correlations in children and adults with fragile X syndrome. / Staley, L. W.; Hull, C. E.; Mazzocco, M. M M; Thibodeau, S. N.; Snow, K.; Wilson, V. L.; Taylor, A.; McGavran, L.; Weiner, D.; Riddle, J.; O'Connor, R.; Hagerman, Randi J.
In: American Journal of Diseases of Children, Vol. 147, No. 7, 1993, p. 723-726.Research output: Contribution to journal › Article
}
TY - JOUR
T1 - Molecular-clinical correlations in children and adults with fragile X syndrome
AU - Staley, L. W.
AU - Hull, C. E.
AU - Mazzocco, M. M M
AU - Thibodeau, S. N.
AU - Snow, K.
AU - Wilson, V. L.
AU - Taylor, A.
AU - McGavran, L.
AU - Weiner, D.
AU - Riddle, J.
AU - O'Connor, R.
AU - Hagerman, Randi J
PY - 1993
Y1 - 1993
N2 - Introduction. - Fragile X syndrome is the most commonly known inherited form of mental retardation. The intellectual abilities range from a normal IQ with learning disabilities to severe mental retardation. In males, there is a tendency for IQ decline in childhood. The purpose of this study was to correlate variations of the molecular cytosine guanine guanine (CGG) amplification in the fragile X mental retardation-1 (FMR-1) gene with the clinical findings, including IQ and physical features. Methods. - Full-scale IQ and cytogenetic results in 116 individuals with the FMR-1 mutation were studied. The IQ testing was performed with age-appropriate standardized tests. Physical features were summarized in a physical index score for each patient. The FMR-1 results were determined with the OX1.9 probe and the following system was used: P1 indicates premutation; P2, large premutation to small full mutation; P3, full mutation; and P4, mosaic. Results/Conclusions. - The findings showed that those females with a small insert in the P1 range had a significantly higher IQ than other heterozygotes (P2, P3, and P4 categories). P4 males had a significantly higher IQ than P2 or P3 males. In cross-sectional age comparisons, the slope of the IQ decline was greater in P2 males than in P4 or P3 males.
AB - Introduction. - Fragile X syndrome is the most commonly known inherited form of mental retardation. The intellectual abilities range from a normal IQ with learning disabilities to severe mental retardation. In males, there is a tendency for IQ decline in childhood. The purpose of this study was to correlate variations of the molecular cytosine guanine guanine (CGG) amplification in the fragile X mental retardation-1 (FMR-1) gene with the clinical findings, including IQ and physical features. Methods. - Full-scale IQ and cytogenetic results in 116 individuals with the FMR-1 mutation were studied. The IQ testing was performed with age-appropriate standardized tests. Physical features were summarized in a physical index score for each patient. The FMR-1 results were determined with the OX1.9 probe and the following system was used: P1 indicates premutation; P2, large premutation to small full mutation; P3, full mutation; and P4, mosaic. Results/Conclusions. - The findings showed that those females with a small insert in the P1 range had a significantly higher IQ than other heterozygotes (P2, P3, and P4 categories). P4 males had a significantly higher IQ than P2 or P3 males. In cross-sectional age comparisons, the slope of the IQ decline was greater in P2 males than in P4 or P3 males.
UR - http://www.scopus.com/inward/record.url?scp=0027253245&partnerID=8YFLogxK
UR - http://www.scopus.com/inward/citedby.url?scp=0027253245&partnerID=8YFLogxK
M3 - Article
C2 - 8322740
AN - SCOPUS:0027253245
VL - 147
SP - 723
EP - 726
JO - JAMA Pediatrics
JF - JAMA Pediatrics
SN - 2168-6203
IS - 7
ER -