Molecular and clinical examination of an Italian DEFECT 11 family

W. Wuyts; G. Di Gennaro; F. Bianco; J. Wauters; C. Morocutti; F. Pierelli; P. Bossuyt; W. Van Hul; C. Casali

doi:10.1038/sj.ejhg.5200339

Molecular and clinical examination of an Italian DEFECT 11 family

W. Wuyts, G. Di Gennaro, F. Bianco, J. Wauters, C. Morocutti, F. Pierelli, P. Bossuyt, W. Van Hul, C. Casali

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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	https://doi.org/10.1038/sj.ejhg.5200339
Publication status	Published - 1999

Keywords

Brain abnormalities
Chromosome 11
DEFECT 11
Deletion
FPP
Multiple exostoses

ASJC Scopus subject areas

Genetics(clinical)

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10.1038/sj.ejhg.5200339

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title = "Molecular and clinical examination of an Italian DEFECT 11 family",

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.",

keywords = "Brain abnormalities, Chromosome 11, DEFECT 11, Deletion, FPP, Multiple exostoses",

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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

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Molecular and clinical examination of an Italian DEFECT 11 family

Abstract

Keywords

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