Mosaicism del(8p)/inv dup(8p) in a dysmorphic female infant: a mosaic formed by a meiotic error at the 8p OR gene and an independent terminal deletion event.

@article{Vermeesch2003MosaicismDD,
  title={Mosaicism del(8p)/inv dup(8p) in a dysmorphic female infant: a mosaic formed by a meiotic error at the 8p OR gene and an independent terminal deletion event.},
  author={Joris Robert Vermeesch and Reinhilde Thoelen and Ivo Salden and Marc M Raes and Gert Matthijs and J F Fryns},
  journal={Journal of medical genetics},
  year={2003},
  volume={40 8},
  pages={e93}
}
Various chromosomal rearrangements are associated with the distal 8p region. Among them are the inv dup(8p), del(8p22), and del(8)(pter). The cardinal phenotypic features of the inv dup(8p) are brain malformations, severe mental retardation with specific involvement of speech, and minor facial dysmorphisms. Deletions (8p22) are associated with congenital heart malformations, thought to be caused by haploinsufficiency of GATA4. Other features are microcephaly, intrauterine growth retardation… CONTINUE READING
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