Abstract
We report on a series of 453 mentally retarded subjects investigated for fragile X syndrome from 1982 to July 1995. The 22% rate of efficiency of FRAX positivity indicated a significant preselection by the clinicians. However, this rate dropped to 11% in the last year. Since 1992, Southern blot analysis was extended to include family members of the 87 positive subjects, for a total of 442 individuals examined with the probe StB12.3. In addition to premutated (118), fully mutated (148), and pre/full mutation mosaic subjects (27), 14 atypical cases were found. Some of these cases are described in more detail. In particular, we report on the hybridization and polymerase chain reaction data of 2 fragile X subjects with full mutation and a 2.8-kb allele and 1 with full mutation and a 2.4-kb allele. An intellectually normal male with 18% of fraXq27.3 and an unmethylated full mutation is also described. Finally, a mentally retarded child with only a lower allele of 2.7 kb is presented.
| Original language | English |
|---|---|
| Pages (from-to) | 176-180 |
| Number of pages | 5 |
| Journal | American Journal of Medical Genetics |
| Volume | 64 |
| Issue number | 1 |
| DOIs | |
| Publication status | Published - Jul 12 1996 |
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Keywords
- atypical cases
- DNA diagnosis
- fragile X
- mosaics
ASJC Scopus subject areas
- Genetics(clinical)
- Neuroscience(all)
- Neuropsychology and Physiological Psychology
Cite this
Molecular and cytogenetic analysis of the fragile X syndrome in a series of 453 mentally retarded subjects : A study of 87 families. / Perroni, L.; Grasso, M.; Argusti, A.; Lo Nigro, C.; Croci, G. F.; Zelante, L.; Garani, G. P.; Dagna Bricarelli, F.
In: American Journal of Medical Genetics, Vol. 64, No. 1, 12.07.1996, p. 176-180.Research output: Contribution to journal › Article
}
TY - JOUR
T1 - Molecular and cytogenetic analysis of the fragile X syndrome in a series of 453 mentally retarded subjects
T2 - A study of 87 families
AU - Perroni, L.
AU - Grasso, M.
AU - Argusti, A.
AU - Lo Nigro, C.
AU - Croci, G. F.
AU - Zelante, L.
AU - Garani, G. P.
AU - Dagna Bricarelli, F.
PY - 1996/7/12
Y1 - 1996/7/12
N2 - We report on a series of 453 mentally retarded subjects investigated for fragile X syndrome from 1982 to July 1995. The 22% rate of efficiency of FRAX positivity indicated a significant preselection by the clinicians. However, this rate dropped to 11% in the last year. Since 1992, Southern blot analysis was extended to include family members of the 87 positive subjects, for a total of 442 individuals examined with the probe StB12.3. In addition to premutated (118), fully mutated (148), and pre/full mutation mosaic subjects (27), 14 atypical cases were found. Some of these cases are described in more detail. In particular, we report on the hybridization and polymerase chain reaction data of 2 fragile X subjects with full mutation and a 2.8-kb allele and 1 with full mutation and a 2.4-kb allele. An intellectually normal male with 18% of fraXq27.3 and an unmethylated full mutation is also described. Finally, a mentally retarded child with only a lower allele of 2.7 kb is presented.
AB - We report on a series of 453 mentally retarded subjects investigated for fragile X syndrome from 1982 to July 1995. The 22% rate of efficiency of FRAX positivity indicated a significant preselection by the clinicians. However, this rate dropped to 11% in the last year. Since 1992, Southern blot analysis was extended to include family members of the 87 positive subjects, for a total of 442 individuals examined with the probe StB12.3. In addition to premutated (118), fully mutated (148), and pre/full mutation mosaic subjects (27), 14 atypical cases were found. Some of these cases are described in more detail. In particular, we report on the hybridization and polymerase chain reaction data of 2 fragile X subjects with full mutation and a 2.8-kb allele and 1 with full mutation and a 2.4-kb allele. An intellectually normal male with 18% of fraXq27.3 and an unmethylated full mutation is also described. Finally, a mentally retarded child with only a lower allele of 2.7 kb is presented.
KW - atypical cases
KW - DNA diagnosis
KW - fragile X
KW - mosaics
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UR - http://www.scopus.com/inward/citedby.url?scp=0029996847&partnerID=8YFLogxK
U2 - 10.1002/(SICI)1096-8628(19960712)64:1<176::AID-AJMG30>3.0.CO;2-I
DO - 10.1002/(SICI)1096-8628(19960712)64:1<176::AID-AJMG30>3.0.CO;2-I
M3 - Article
VL - 64
SP - 176
EP - 180
JO - American Journal of Medical Genetics, Part A
JF - American Journal of Medical Genetics, Part A
SN - 1552-4825
IS - 1
ER -