| Prenatal diagnosis of fragile X syndrome: (CGG)n expansion and methylation of chorionic villus samples. | |
| | |
MedLine Citation:
|
PMID: 8559749 Owner: NLM Status: MEDLINE |
Abstract/OtherAbstract:
|
Fragile X syndrome is the most common form of inherited mental retardation, due to an expansion of the (CGG)n trinucleotide repeat in the FMR-1 gene and hypermethylation of its 5' upstream CpG island. Two major problems remain to be resolved for fragile X prenatal diagnosis: the abnormal methylation patterns of chorionic villus samples (CVS) and the inability to predict the mental status of females with the full mutation. We present here the results of ten prenatal diagnoses of fragile X syndrome using Southern blotting and polymerase chain reaction (PCR) amplification, and the analysis of 50 further CVS to test the methylation status of the CpG island of the FMR-1 gene. In the ten 'at-risk' CVS, eight normal (five males and three females) and two affected male fetuses were detected. Absence of methylation in the CVS was observed in two cases, which was not found upon subsequent examination of the newborn or of fetal tissues. In the 50 CVS not 'at risk' for fragile X syndrome, abnormal fragment patterns for probe StB12.3 were detected in 32 per cent for female and 24 per cent for male fetuses. This abnormal pattern could be due to absent or partial methylation of the CpG island of the FMR-1 gene in chorionic villus tissues. |
| | |
Authors:
|
S Castellví-Bel; M Milà; A Soler; A Carrió; A Sánchez; M Villa; M D Jiménez; X Estivill |
Related Documents
:
|
16500739 - Mathematics learning disability in girls with turner syndrome or fragile x syndrome. 10710419 - Interruption of the fragile x syndrome expanded sequence d(cgg)(n) by interspersed d(ag... 2310339 - Critical evaluation of the cocaine test in the diagnosis of horner's syndrome. 3890529 - Folic acid blinded trial in identical twins with fragile x syndrome. 3052069 - Is there a fragile(x) negative martin-bell syndrome? 21443719 - Post-infectious irritable bowel syndrome: the past, the present and the future. 3538139 - Mayer-rokitansky-kuster-hauser syndrome: us aid to diagnosis. 19929089 - Cleft palate in a rare case of variant klinefelter syndrome with 48,xxxy/46,xy mosaicism. 21554259 - The clinical management of tumour lysis syndrome in haematological malignancies. |
Publication Detail:
|
Type: Journal Article; Research Support, Non-U.S. Gov't |
Journal Detail:
|
Title: Prenatal diagnosis Volume: 15 ISSN: 0197-3851 ISO Abbreviation: Prenat. Diagn. Publication Date: 1995 Sep |
Date Detail:
|
Created Date: 1996-02-27 Completed Date: 1996-02-27 Revised Date: 2009-11-19 |
Medline Journal Info:
|
Nlm Unique ID: 8106540 Medline TA: Prenat Diagn Country: ENGLAND |
Other Details:
|
Languages: eng Pagination: 801-7 Citation Subset: IM |
Affiliation:
|
Servei de Genètica, Hospital Clínic, Barcelona, Catalunya, Spain. |
Export Citation:
|
APA/MLA Format Download EndNote Download BibTex |
| MeSH Terms | |
Descriptor/Qualifier:
|
Blotting, Southern Chorionic Villi Sampling* CpG Islands Female Fragile X Mental Retardation Protein Fragile X Syndrome / diagnosis*, genetics Genetic Testing* Humans Male Methylation Mutation Nerve Tissue Proteins / genetics* Polymerase Chain Reaction Pregnancy Pregnancy, High-Risk RNA-Binding Proteins* Repetitive Sequences, Nucleic Acid |
| Chemical | |
Reg. No./Substance:
|
0/FMR1 protein, human; 0/Nerve Tissue Proteins; 0/RNA-Binding Proteins; 139135-51-6/Fragile X Mental Retardation Protein |
From MEDLINE®/PubMed®, a database of the U.S. National Library of Medicine
Previous Document: Evaluation of routine prenatal diagnosis by a registry of congenital anomalies.
Next Document: Pregnancy outcome after transcervical CVS with a flexible biopsy forceps: evaluation of risk factors...