Abstract
We present two women with the fragile X syndrome (Martin-Bell syndrome) and autism. Both are mentally retarded, one mildly and one severely. Cytogenetic studies showed a high percentage of lymphocytes with the fragile X chromosome and inactivation occurring preferentially in the normal X chromosome. Autism is shown to be a severe behavioral and cognitive manifestation of the fragile X syndrome in females.
| Original language | English (US) |
|---|---|
| Pages (from-to) | 375-380 |
| Number of pages | 6 |
| Journal | American Journal of Medical Genetics |
| Volume | 23 |
| Issue number | 1-2 |
| State | Published - 1986 |
| Externally published | Yes |
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ASJC Scopus subject areas
- Genetics(clinical)
Cite this
Autism in fragile X females. / Hagerman, Randi J; Chudley, A. E.; Knoll, J. H.; Jackson, A. W.; Kemper, M.; Ahmad, R.
In: American Journal of Medical Genetics, Vol. 23, No. 1-2, 1986, p. 375-380.Research output: Contribution to journal › Article
}
TY - JOUR
T1 - Autism in fragile X females
AU - Hagerman, Randi J
AU - Chudley, A. E.
AU - Knoll, J. H.
AU - Jackson, A. W.
AU - Kemper, M.
AU - Ahmad, R.
PY - 1986
Y1 - 1986
N2 - We present two women with the fragile X syndrome (Martin-Bell syndrome) and autism. Both are mentally retarded, one mildly and one severely. Cytogenetic studies showed a high percentage of lymphocytes with the fragile X chromosome and inactivation occurring preferentially in the normal X chromosome. Autism is shown to be a severe behavioral and cognitive manifestation of the fragile X syndrome in females.
AB - We present two women with the fragile X syndrome (Martin-Bell syndrome) and autism. Both are mentally retarded, one mildly and one severely. Cytogenetic studies showed a high percentage of lymphocytes with the fragile X chromosome and inactivation occurring preferentially in the normal X chromosome. Autism is shown to be a severe behavioral and cognitive manifestation of the fragile X syndrome in females.
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UR - http://www.scopus.com/inward/citedby.url?scp=0022610146&partnerID=8YFLogxK
M3 - Article
C2 - 3953655
AN - SCOPUS:0022610146
VL - 23
SP - 375
EP - 380
JO - American Journal of Medical Genetics
JF - American Journal of Medical Genetics
SN - 1552-4825
IS - 1-2
ER -