Intrachromosomal insertions: a case report and a review |
| |
Authors: | K Madan F H Menko |
| |
Institution: | (1) Department of Clinical Genetics, Free University Hospital, Postbus 7057, NL-1007 MB Amsterdam, The Netherlands;(2) Cytogenetics Laboratory, 0 Central Hall 13, Polikliniek, Free University Hospital, Postbus 7057, NL-1007 MB Amsterdam, The Netherlands |
| |
Abstract: | 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. |
| |
Keywords: | |
本文献已被 SpringerLink 等数据库收录! |
|