SATELLITED Y-CHROMOSOME (YQS) AND NUCLEOLAR ORGANIZER REGION HAVING OCCURRED DENOVO

Abstract

A satellited Y chromosome (Yqs) occurred de novo in a male infant born to 1st cousins. The child had severe mental retardation, facial dysmorphism, congenital heart disease and amaurosis, and died at 6 mo. of age. The chromosome rearrangement was confirmed by R[reverse]-, G[Giemsa]-, C[Constitutive heterochromatin]-, Q[quinacrine]- and Ag-NOR [nucleolus organizer region] banding. The difficulty of genetic counseling is discussed.