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...

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Bibliographic Details
Published in:Journal of medical genetics 1998-04, Vol.35 (4), p.319-322
Main Authors: Glass, I A, Stormer, P, Oei, P T, Hacking, E, Cotter, P D
Format: Article
Language:English
Subjects:
Abnormalities, Multiple - genetics
Adult
Aged
Chromosomes, Human, Pair 2
Diabetes Mellitus, Type 1 - genetics
Female
Humans
Mutagenesis, Insertional
Paranoid Disorders - genetics
Psychotic Disorders - genetics
Trisomy
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Summary: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.
ISSN:0022-2593
1468-6244
1468-6244
DOI:10.1136/jmg.35.4.319