Mosaic 46, XY/47,XY, + der(18)t(Y;18)(q11.22;q11.2) karyotype, moderate mental retardation and non-specific dysmorphism.
Fryns
J P
JP
Centre for Human Genetics, University of Leuven, Belgium.
Kleczkowska
A
A
Van Den Berghe
H
H
D000015:Abnormalities, Multiple / Q000235:genetics*; D000328:Adult; D002871:Chromosome Banding; D002880:Chromosomes, Human, Pair 11; D002887:Chromosomes, Human, Pair 18; D005147:Facial Bones / Q000002:abnormalities*; D006801:Humans; D008607:Intellectual Disability / Q000235:genetics*; D008297:Male; D009030:Mosaicism; D012729:Sex Chromosome Aberrations / Q000235:genetics*; D012886:Skull / Q000002:abnormalities*; D014178:Translocation, Genetic / Q000235:genetics*; D014998:Y Chromosome