Intrachromosomal insertions: a case report and a review.
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.
Madan
K
K
Department of Clinical Genetics, Free University Hospital, Amsterdam, The Netherlands.
Menko
F H
FH
D000015:Abnormalities, Multiple / Q000235:genetics*; D002869:Chromosome Aberrations / Q000235:genetics*; D002893:Chromosomes, Human, Pair 3; D006579:Heterozygote; D006801:Humans; D007231:Infant, Newborn; D007621:Karyotyping; D008297:Male; D011995:Recombination, Genetic / Q000235:genetics*; D012306:Risk