Document Detail


Unusual (CGG)n expansion and recombination in a family with fragile X and DiGeorge syndrome.
MedLine Citation:
PMID:  7783179     Owner:  NLM     Status:  MEDLINE    
Abstract/OtherAbstract:
In a fragile X family referred for prenatal diagnosis, the female fetus did not inherit the full fragile X mutation from her mother, but an unexpected expansion within the normal range of CGG repeats from 29 to 39 was observed in the paternal X chromosome. Also, a rare recombination between DXS548 and FRAXAC1 was recorded in the maternal meiosis. Follow up of the neonate confirmed the same DNA genotype as in the CVS, but the child died of DiGeorge syndrome after four days and was subsequently found to carry a microdeletion of chromosome 22 using probe cEO. It is suggested that in this family the deletion of chromosome 22 is likely to be a chance event but the rare recombinant and the fragile X mutation might be causally related.
Authors:
J N Macpherson; G Curtis; J A Crolla; N Dennis; B Migeon; P K Grewal; M C Hirst; K E Davies; P A Jacobs
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Publication Detail:
Type:  Case Reports; Journal Article; Research Support, U.S. Gov't, P.H.S.    
Journal Detail:
Title:  Journal of medical genetics     Volume:  32     ISSN:  0022-2593     ISO Abbreviation:  J. Med. Genet.     Publication Date:  1995 Mar 
Date Detail:
Created Date:  1995-07-20     Completed Date:  1995-07-20     Revised Date:  2013-04-15    
Medline Journal Info:
Nlm Unique ID:  2985087R     Medline TA:  J Med Genet     Country:  ENGLAND    
Other Details:
Languages:  eng     Pagination:  236-9     Citation Subset:  IM    
Affiliation:
Wessex Regional Genetics Laboratory, Salisbury District Hospital, Wiltshire, UK.
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MeSH Terms
Descriptor/Qualifier:
Adult
Alleles
Animals
Base Sequence
Cell Fusion
Cells, Cultured
Chromosomes, Human, Pair 22 / genetics
DNA Probes
DiGeorge Syndrome / genetics*
Family Health
Female
Fibroblasts
Fragile X Mental Retardation Protein
Fragile X Syndrome / diagnosis,  genetics*
Genetic Markers
Humans
Infant, Newborn
Male
Metaphase
Mice
Molecular Sequence Data
Mutation
Nerve Tissue Proteins / genetics
Pedigree
Pregnancy
Prenatal Diagnosis
RNA-Binding Proteins / genetics
Repetitive Sequences, Nucleic Acid*
Sequence Deletion
Sex Chromosome Aberrations
Skin / cytology
X Chromosome / genetics*
Grant Support
ID/Acronym/Agency:
HD05465/HD/NICHD NIH HHS; //Wellcome Trust
Chemical
Reg. No./Substance:
0/DNA Probes; 0/FMR1 protein, human; 0/Fmr1 protein, mouse; 0/Genetic Markers; 0/Nerve Tissue Proteins; 0/RNA-Binding Proteins; 139135-51-6/Fragile X Mental Retardation Protein
Comments/Corrections

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