Abstract
The DEFECT 11 syndrome is a contiguous gene syndrome associated with deletions in the proximal part of chromosome 11p. In this study we describe in an Italian family the co-existence of multiple exostoses (EXT) and enlarged parietal foramina (FPP), the two major symptoms of this syndrome, with abnormalities of the central nervous system. The latter may be a yet undescribed feature of DEFECT 11 syndrome. FISH and molecular analysis allowed us to identify a small deletion on 11p11-p12, further refining the localisation of the FPP gene involved in the DEFECT 11 syndrome.
| Original language | English |
|---|---|
| Pages (from-to) | 579-584 |
| Number of pages | 6 |
| Journal | European Journal of Human Genetics |
| Volume | 7 |
| Issue number | 5 |
| DOIs | |
| Publication status | Published - 1999 |
Fingerprint
Keywords
- Brain abnormalities
- Chromosome 11
- DEFECT 11
- Deletion
- FPP
- Multiple exostoses
ASJC Scopus subject areas
- Genetics(clinical)
Cite this
Molecular and clinical examination of an Italian DEFECT 11 family. / Wuyts, W.; Di Gennaro, G.; Bianco, F.; Wauters, J.; Morocutti, C.; Pierelli, F.; Bossuyt, P.; Van Hul, W.; Casali, C.
In: European Journal of Human Genetics, Vol. 7, No. 5, 1999, p. 579-584.Research output: Contribution to journal › Article
}
TY - JOUR
T1 - Molecular and clinical examination of an Italian DEFECT 11 family
AU - Wuyts, W.
AU - Di Gennaro, G.
AU - Bianco, F.
AU - Wauters, J.
AU - Morocutti, C.
AU - Pierelli, F.
AU - Bossuyt, P.
AU - Van Hul, W.
AU - Casali, C.
PY - 1999
Y1 - 1999
N2 - The DEFECT 11 syndrome is a contiguous gene syndrome associated with deletions in the proximal part of chromosome 11p. In this study we describe in an Italian family the co-existence of multiple exostoses (EXT) and enlarged parietal foramina (FPP), the two major symptoms of this syndrome, with abnormalities of the central nervous system. The latter may be a yet undescribed feature of DEFECT 11 syndrome. FISH and molecular analysis allowed us to identify a small deletion on 11p11-p12, further refining the localisation of the FPP gene involved in the DEFECT 11 syndrome.
AB - The DEFECT 11 syndrome is a contiguous gene syndrome associated with deletions in the proximal part of chromosome 11p. In this study we describe in an Italian family the co-existence of multiple exostoses (EXT) and enlarged parietal foramina (FPP), the two major symptoms of this syndrome, with abnormalities of the central nervous system. The latter may be a yet undescribed feature of DEFECT 11 syndrome. FISH and molecular analysis allowed us to identify a small deletion on 11p11-p12, further refining the localisation of the FPP gene involved in the DEFECT 11 syndrome.
KW - Brain abnormalities
KW - Chromosome 11
KW - DEFECT 11
KW - Deletion
KW - FPP
KW - Multiple exostoses
UR - http://www.scopus.com/inward/record.url?scp=0032787808&partnerID=8YFLogxK
UR - http://www.scopus.com/inward/citedby.url?scp=0032787808&partnerID=8YFLogxK
U2 - 10.1038/sj.ejhg.5200339
DO - 10.1038/sj.ejhg.5200339
M3 - Article
C2 - 10439965
AN - SCOPUS:0032787808
VL - 7
SP - 579
EP - 584
JO - European Journal of Human Genetics
JF - European Journal of Human Genetics
SN - 1018-4813
IS - 5
ER -