Mental retardation and Y/8 translocation [karyotype: 46,XY, t(Y;8)(q12;q24)] in father and son.
In the present report we describe a 98/12-year-old male with Noonan phenotype, moderate mental retardation and 46,XY, der(8), t(Y;8)(q12;q24) karyotype. Further examination of the family revealed that the boy inherited the Noonan features from his mother and the Y/8 translocation from his moderately mentally handicapped father.
Fryns
J P
JP
Center for Human Genetics, Leuven, Belgium.
Kleczkowska
A
A
Dereymaeker
A M
AM
Van den Berghe
H
H
D002648:Child; D002898:Chromosomes, Human, Pair 8; D006580:Genetic Carrier Screening; D006801:Humans; D008607:Intellectual Disability / Q000235:genetics*; D007621:Karyotyping; D008297:Male; D009634:Noonan Syndrome / Q000235:genetics*; D010641:Phenotype; D014178:Translocation, Genetic; D014998:Y Chromosome