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Intrachromosomal insertions: a case report and a review

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Summary

We describe the phenotype of a child having a recombinant chromosome 3 with a duplication 3q13.2 →q25 derived from a paternal inv ins(3)(p25.3q25q13.2). A review of 27 reported cases of intrachromosomal insertions has revealed that for a carrier of intrachromosomal insertion the risk of a child with an unbalanced karyotype is 15%. This risk may be higher for particular insertions. The recombinant chromosome can have a duplication or a deletion of different segments depending on whether the insertion is direct or inverted, paracentric or pericentric, and whether there is meiotic crossing over in the inserted or the interstitial non-inserted segment. Several of the insertions have been difficult to interpret and some of them have been mistaken for paracentric inversions. Caution is therefore indicated in interpreting parental karyotypes of a child with a deletion or a duplication, particularly if it is interstitial. This is because, whereas a risk of recurrence of a child with an unbalanced karyotype is low in de novo cases and for carriers of paracentric inversions, it is high for carriers of insertions.

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  1. Department of Clinical Genetics, Free University Hospital, Postbus 7057, NL-1007, MB Amsterdam, The Netherlands

    K. Madan & F. H. Menko

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  1. K. Madan
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Madan, K., Menko, F.H. Intrachromosomal insertions: a case report and a review. Hum Genet 89, 1–9 (1992). https://doi.org/10.1007/BF00207032

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