Trisomy 2q11.2-->q21.1 resulting from an unbalanced insertion in two generations.
case_report · Level V
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- Record sourced from PubMed, PMID 9598728.
- Also identified by PMC identifier 1051282.
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Abstract
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.
Medical subject headings
- Abnormalities, Multiple
- Chromosomes, Human, Pair 2
- Mutagenesis, Insertional
- Trisomy