Document Detail


Macrocephaly, hypospadias grade III-IV, and fragile X-like behavior in identical twins without involvement of the FMR-1 gene.
MedLine Citation:
PMID:  8897045     Owner:  NLM     Status:  MEDLINE    
Abstract/OtherAbstract:
We present the distinct clinical symptoms and stigmata in 4.5 years old monozygotic male twins: macrocephaly, hypospadias grade III-IV, moderate mental retardation and fragile X-like behavior. Chromosome studies were normal and no FMR-1 mutation could be detected. We could not find other reports on the association of a fragile X-like clinical and behavioral phenotype and hypospadias grade III-IV.
Authors:
J P Fryns; M D'Hooghe; K Devriendt
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Publication Detail:
Type:  Case Reports; Journal Article    
Journal Detail:
Title:  Genetic counseling (Geneva, Switzerland)     Volume:  7     ISSN:  1015-8146     ISO Abbreviation:  Genet. Couns.     Publication Date:  1996  
Date Detail:
Created Date:  1997-03-03     Completed Date:  1997-03-03     Revised Date:  2006-07-06    
Medline Journal Info:
Nlm Unique ID:  9015261     Medline TA:  Genet Couns     Country:  SWITZERLAND    
Other Details:
Languages:  eng     Pagination:  227-30     Citation Subset:  IM    
Affiliation:
Center for Human Genetics, University Hospital of Leuven, Belgium.
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MeSH Terms
Descriptor/Qualifier:
Child, Preschool
Craniofacial Abnormalities / diagnosis,  genetics*
Diseases in Twins / genetics*
Fragile X Mental Retardation Protein
Fragile X Syndrome / diagnosis,  genetics*
Humans
Hypospadias / diagnosis,  genetics*
Male
Mental Retardation / diagnosis,  genetics
Nerve Tissue Proteins / genetics*
Phenotype
RNA-Binding Proteins*
Twins, Monozygotic / genetics
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


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