| Monozygotic twin brothers with the fragile X syndrome: different CGG repeats and different mental capacities. | |
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MedLine Citation:
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PMID: 10204857 Owner: NLM Status: MEDLINE |
Abstract/OtherAbstract:
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Little is known about the mechanism of CGG instability and the time frame of instability early in embryonic development in the fragile X syndrome. Discordant monozygotic twin brothers with the fragile X syndrome could give us insight into the time frame of the instability. We describe monochorionic diamniotic twin brothers with the fragile X syndrome who had different CGG repeats and different mental capacities, whereas the normal mother had a premutation. The more retarded brother had a full mutation in all his cells and no FMR-1 protein expression in lymphocytes, whereas the less retarded brother had 50%/50% mosaicism for a premutation and full mutation and FMR-1 protein expression in 26% of his lymphocytes. The differences in repeat size could have arisen either before or after the time of splitting. The time of splitting in this type of twin is around day 6-7. Given the high percentage of mosaicism, we hypothesise that the instability started before the time of splitting at day 6-7. |
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Authors:
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A T Helderman-van den Enden; P D Maaswinkel-Mooij; E Hoogendoorn; R Willemsen; J A Maat-Kievit; M Losekoot; B A Oostra |
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Publication Detail:
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Type: Case Reports; Journal Article; Research Support, Non-U.S. Gov't |
Journal Detail:
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Title: Journal of medical genetics Volume: 36 ISSN: 0022-2593 ISO Abbreviation: J. Med. Genet. Publication Date: 1999 Mar |
Date Detail:
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Created Date: 1999-06-11 Completed Date: 1999-06-11 Revised Date: 2008-11-20 |
Medline Journal Info:
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Nlm Unique ID: 2985087R Medline TA: J Med Genet Country: ENGLAND |
Other Details:
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Languages: eng Pagination: 253-7 Citation Subset: IM |
Affiliation:
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Department of Clinical Genetics, Leiden University Medical Centre, The Netherlands. |
Export Citation:
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| MeSH Terms | |
Descriptor/Qualifier:
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Child, Preschool DNA Methylation Female Fragile X Mental Retardation Protein Fragile X Syndrome / genetics*, metabolism, psychology Humans Male Mutagenesis Nerve Tissue Proteins / genetics*, metabolism Pedigree RNA-Binding Proteins* Trinucleotide Repeats* Twins, Monozygotic / genetics* |
| Chemical | |
Reg. No./Substance:
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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
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