[Satellited Y chromosome (Yqs) and nucleolar organizer occurring de novo].
A satellited Y chromosome (Yqs) occurred de novo in a boy born to first cousins. The child had severe mental retardation, facial dysmorphism, congenital heart disease, and amaurosis, and died at 6 months and of age. The chromosome rearrangement was confirmed by R-, G-, C-, Q-, and Ag-NOR banding. Its significance and the difficulty of genetic counseling are discussed.
D002466:Cell Nucleolus; D002869:Chromosome Aberrations; D002871:Chromosome Banding; D006801:Humans; D007231:Infant, Newborn; D008297:Male; D012730:Sex Chromosomes; D014998:Y Chromosome
Chromosome Y avec satellite (Yqs) et organisateur nucléolaire survenu de novo.