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Screening for the fragile X syndrome among the mentally retarded: a clinical study. The Collaborative Fragile X Study Group.
J Med Genet
June 1999
Department of Clinical Genetics, University Hospital Dijkzigt, Erasmus University, Rotterdam, The Netherlands.
The fragile X syndrome is characterised by mental retardation with other features such as a long face with large, protruding ears, macro-orchidism, and eye gaze avoidance. This X linked disorder is caused by an expanded CGG repeat in the first exon of the fragile X mental retardation (FMR1) gene which is associated with shut down of transcription and absence of the fragile X mental retardation protein (FMRP). Molecular testing is used for detection of patients and carriers of the fragile X syndrome.
View Article and Find Full Text PDFPrevalence and clinical characteristics of fragile X syndrome at child development clinic, Ramathibodi Hospital.
J Med Assoc Thai
January 2000
Department of Pediatrics, Faculty of Medicine, Ramathibodi Hospital, Mahidol University, Bangkok, Thailand.
Fragile X syndrome, the most common cause of inherited mental retardation, is an X-linked genetic disorder caused by an expanded CGG repeat in the fragile X mental retardation 1 gene. It is characterized by mental retardation, behavioral features, and physical features, such as a long face with large protruding ears and macro-orchidism. A screening for the syndrome was conducted in a representative sample of pediatric patients, who had developmental delay or mental retardation with unknown cause, at the Child Development Clinic, Ramathibodi Hospital.
View Article and Find Full Text PDFThe fragile X syndrome.
J Med Genet
July 1998
Department of Clinical Genetics, University Hospital Dijkzigt and Erasmus University, Rotterdam, The Netherlands.
The fragile X syndrome is characterised by mental retardation, behavioural features, and physical features, such as a long face with large protruding ears and macro-orchidism. In 1991, after identification of the fragile X mental retardation (FMR1) gene, the cytogenetic marker (a fragile site at Xq27.3) became replaced by molecular diagnosis.
View Article and Find Full Text PDFScreening for fragile X syndrome.
Health Technol Assess
January 1998
Centre for Reproduction, Growth & Development, Research School of Medicine, University of Leeds.
BACKGROUND AND AIM OF REVIEW. In 1991, the gene responsible for fragile X syndrome, a common cause of learning disability, was discovered. As a result, diagnosis of the disorder has improved and its molecular genetics are now understood.
View Article and Find Full Text PDF[Macro-orchidism: new pathogenetic and histopathologic aspects].
Arch Esp Urol
June 1994
Departamento de Morfología, Facultad de Medicina, Universidad Autónoma de Madrid, España.
Macro-orchidism (MO) is the increase of the testicular volume, up to 25 ml in the adult male. It is frequently associated with mental retardation (MR) with fragile X-chromosome (FXC) (Martin-Bell syndrome). Sometimes it is of unknown origin and is called "benign idiopathic macro-orchidism" (BIMO).
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