Abstract
We have studied the prevalence of the fra(X) and of the autosomal fragile sites fra(10) (q25) and fra(16) (q22) in patients from an institute for the mentally retarded in Italy. We found six cases (1.9%) of fra(10) (q25) and 9 (2.9%) of fra(16) (q22). The study of the fra(X) was restricted to a subgroup of 91 males who did not have other chromosome anomalies or variants, and led to the discovery of 4 fra(X) cases. These 4 had the Martin-Bell syndrome; 3 of them were epileptic and had a characteristic EEG pattern originating during sleep from the temporal lobe not previously described in fra(X) mental retardation.
| Original language | English |
|---|---|
| Pages (from-to) | 589-595 |
| Number of pages | 7 |
| Journal | American Journal of Medical Genetics |
| Volume | 23 |
| Issue number | 1-2 |
| Publication status | Published - 1986 |
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ASJC Scopus subject areas
- Genetics(clinical)
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Fragile X mental retardation : Prevalence in a group of institutionalized patients in Italy and description of a novel EEG pattern. / Sanfilippo, S.; Ragusa, R. M.; Musumeci, S.; Neri, G.
In: American Journal of Medical Genetics, Vol. 23, No. 1-2, 1986, p. 589-595.Research output: Contribution to journal › Article
}
TY - JOUR
T1 - Fragile X mental retardation
T2 - Prevalence in a group of institutionalized patients in Italy and description of a novel EEG pattern
AU - Sanfilippo, S.
AU - Ragusa, R. M.
AU - Musumeci, S.
AU - Neri, G.
PY - 1986
Y1 - 1986
N2 - We have studied the prevalence of the fra(X) and of the autosomal fragile sites fra(10) (q25) and fra(16) (q22) in patients from an institute for the mentally retarded in Italy. We found six cases (1.9%) of fra(10) (q25) and 9 (2.9%) of fra(16) (q22). The study of the fra(X) was restricted to a subgroup of 91 males who did not have other chromosome anomalies or variants, and led to the discovery of 4 fra(X) cases. These 4 had the Martin-Bell syndrome; 3 of them were epileptic and had a characteristic EEG pattern originating during sleep from the temporal lobe not previously described in fra(X) mental retardation.
AB - We have studied the prevalence of the fra(X) and of the autosomal fragile sites fra(10) (q25) and fra(16) (q22) in patients from an institute for the mentally retarded in Italy. We found six cases (1.9%) of fra(10) (q25) and 9 (2.9%) of fra(16) (q22). The study of the fra(X) was restricted to a subgroup of 91 males who did not have other chromosome anomalies or variants, and led to the discovery of 4 fra(X) cases. These 4 had the Martin-Bell syndrome; 3 of them were epileptic and had a characteristic EEG pattern originating during sleep from the temporal lobe not previously described in fra(X) mental retardation.
UR - http://www.scopus.com/inward/record.url?scp=0022607496&partnerID=8YFLogxK
UR - http://www.scopus.com/inward/citedby.url?scp=0022607496&partnerID=8YFLogxK
M3 - Article
VL - 23
SP - 589
EP - 595
JO - American Journal of Medical Genetics, Part A
JF - American Journal of Medical Genetics, Part A
SN - 1552-4825
IS - 1-2
ER -