Abstract
Two fragile-X [fra)X)] pedigrees are described, in each of which one member shows a low count of fra(X)-positive cells. One of these two members has large ears and macroorchidism but normal intelligence; the other has normal intelligence but shows an estimated risk to be a fra(X) carrier >90% using the DNA probe U6.2. These data show that individuals with low-count fra(X) cells should be considered as fra(X)-positive when they belong to a fra(X) pedigree and/or present some clinical features of the Martin-Bell syndrome. More specific tools are needed for the laboratory diagnosis of the fra(X) syndrome.
| Original language | English |
|---|---|
| Pages (from-to) | 38-44 |
| Number of pages | 7 |
| Journal | Brain Dysfunction |
| Volume | 3 |
| Issue number | 1-2 |
| Publication status | Published - 1990 |
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ASJC Scopus subject areas
- Clinical Neurology
- Neuroscience(all)
Cite this
Low-count fragile-X subjects in fragile-X-positive pedigrees : A clinical and genetic study of two families. / Romano, C.; Barletta, C.; Buono, S.; Ferri, R.; Ragusa, R. M.; Bergonzi, P.
In: Brain Dysfunction, Vol. 3, No. 1-2, 1990, p. 38-44.Research output: Contribution to journal › Article
}
TY - JOUR
T1 - Low-count fragile-X subjects in fragile-X-positive pedigrees
T2 - A clinical and genetic study of two families
AU - Romano, C.
AU - Barletta, C.
AU - Buono, S.
AU - Ferri, R.
AU - Ragusa, R. M.
AU - Bergonzi, P.
PY - 1990
Y1 - 1990
N2 - Two fragile-X [fra)X)] pedigrees are described, in each of which one member shows a low count of fra(X)-positive cells. One of these two members has large ears and macroorchidism but normal intelligence; the other has normal intelligence but shows an estimated risk to be a fra(X) carrier >90% using the DNA probe U6.2. These data show that individuals with low-count fra(X) cells should be considered as fra(X)-positive when they belong to a fra(X) pedigree and/or present some clinical features of the Martin-Bell syndrome. More specific tools are needed for the laboratory diagnosis of the fra(X) syndrome.
AB - Two fragile-X [fra)X)] pedigrees are described, in each of which one member shows a low count of fra(X)-positive cells. One of these two members has large ears and macroorchidism but normal intelligence; the other has normal intelligence but shows an estimated risk to be a fra(X) carrier >90% using the DNA probe U6.2. These data show that individuals with low-count fra(X) cells should be considered as fra(X)-positive when they belong to a fra(X) pedigree and/or present some clinical features of the Martin-Bell syndrome. More specific tools are needed for the laboratory diagnosis of the fra(X) syndrome.
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UR - http://www.scopus.com/inward/citedby.url?scp=0025553661&partnerID=8YFLogxK
M3 - Article
AN - SCOPUS:0025553661
VL - 3
SP - 38
EP - 44
JO - Brain Dysfunction
JF - Brain Dysfunction
SN - 0259-1278
IS - 1-2
ER -