Trisomy 2q11.2 [right arrow] q21.1 resulting from an unbalanced insertion in two generations

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In this communication, we describe two cases of proximal 2q trisomy (2q11.2 [right arrow] q21.1) resulting from an interchromosomal insertion. The chromosomal origin of the insertion was confirmed by fluorescence in situ hybridisation. An unbalanced karyotype, 46,XX,der(8),ins(8;2)(p21.3;q21.1q11.2), was found in the proband and her mother, who both have mild mental retardation, short stature, dysmorphic features, insulin dependent diabetes mellitus, and a psychotic illness. This family is a rare example of direct transmission of a partial autosomal trisomy.

(J Med Genet 1998;35:319-322)

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