Trisomy 2q11.2-->q21.1 resulting from an unbalanced insertion in two generations.
In this communication, we describe two cases of proximal 2q trisomy (2q11.2--> 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.
Glass
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Queensland Clinical Genetics Service, Herston, Australia.
Stormer
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Oei
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Hacking
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Cotter
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PD
D000015:Abnormalities, Multiple / Q000235:genetics*; D000328:Adult; D000368:Aged; D002889:Chromosomes, Human, Pair 2; D003922:Diabetes Mellitus, Type 1 / Q000235:genetics; D005260:Female; D006801:Humans; D016254:Mutagenesis, Insertional; D010259:Paranoid Disorders / Q000235:genetics; D011618:Psychotic Disorders / Q000235:genetics; D014314:Trisomy