-transparent.png){kind=logo}
BACKGROUND 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. 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.
L W Staley, and
C E Hull, and
M M Mazzocco, and
S N Thibodeau, and
K Snow, and
V L Wilson, and
A Taylor, and
L McGavran, and
D Weiner, and
J Riddle
December 1995,
Therapeutische Umschau. Revue therapeutique,
L W Staley, and
C E Hull, and
M M Mazzocco, and
S N Thibodeau, and
K Snow, and
V L Wilson, and
A Taylor, and
L McGavran, and
D Weiner, and
J Riddle
August 1996,
American journal of medical genetics,
L W Staley, and
C E Hull, and
M M Mazzocco, and
S N Thibodeau, and
K Snow, and
V L Wilson, and
A Taylor, and
L McGavran, and
D Weiner, and
J Riddle
April 1999,
American journal of medical genetics,
L W Staley, and
C E Hull, and
M M Mazzocco, and
S N Thibodeau, and
K Snow, and
V L Wilson, and
A Taylor, and
L McGavran, and
D Weiner, and
J Riddle
January 2008,
The Journal of the Egyptian Public Health Association,
L W Staley, and
C E Hull, and
M M Mazzocco, and
S N Thibodeau, and
K Snow, and
V L Wilson, and
A Taylor, and
L McGavran, and
D Weiner, and
J Riddle
November 1995,
Pediatric research,
L W Staley, and
C E Hull, and
M M Mazzocco, and
S N Thibodeau, and
K Snow, and
V L Wilson, and
A Taylor, and
L McGavran, and
D Weiner, and
J Riddle
October 1989,
Tijdschrift voor kindergeneeskunde,
L W Staley, and
C E Hull, and
M M Mazzocco, and
S N Thibodeau, and
K Snow, and
V L Wilson, and
A Taylor, and
L McGavran, and
D Weiner, and
J Riddle
January 1986,
Indian journal of pediatrics,
L W Staley, and
C E Hull, and
M M Mazzocco, and
S N Thibodeau, and
K Snow, and
V L Wilson, and
A Taylor, and
L McGavran, and
D Weiner, and
J Riddle
November 1993,
Annales de pediatrie,
L W Staley, and
C E Hull, and
M M Mazzocco, and
S N Thibodeau, and
K Snow, and
V L Wilson, and
A Taylor, and
L McGavran, and
D Weiner, and
J Riddle
January 2023,
Colombia medica (Cali, Colombia),
L W Staley, and
C E Hull, and
M M Mazzocco, and
S N Thibodeau, and
K Snow, and
V L Wilson, and
A Taylor, and
L McGavran, and
D Weiner, and
J Riddle
February 1997,
The Western journal of medicine,
