Macrocephaly, hypospadias grade III-IV, and fragile X-like behavior in identical twins without involvement of the FMR-1 gene.
作者信息
Fryns J P, D'Hooghe M, Devriendt K
机构信息
Center for Human Genetics, University Hospital of Leuven, Belgium.
出版信息
Genet Couns. 1996;7(3):227-30.
PMID:8897045
Abstract
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.
摘要
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