Higher frequency of uncommon 1.5-2 Mb deletions found in familial cases of 22q11.2 deletion syndrome.

@article{Fernndez2005HigherFO,
  title={Higher frequency of uncommon 1.5-2 Mb deletions found in familial cases of 22q11.2 deletion syndrome.},
  author={Luis Fern{\'a}ndez and P Lapunzina and Isidora L{\'o}pez Pajares and Germ{\'a}n Rodr{\'i}guez Criado and Luis Garc{\'i}a-Guereta and J Tascon Perez and Jos{\'e} Quero and Alicia Delicado},
  journal={American journal of medical genetics. Part A},
  year={2005},
  volume={136 1},
  pages={71-5}
}
Familial 22q11.2 deletions have been reported as a 6%-28% of the total affected cases of 22q11.2 microdeletion syndrome (del22q11.2). Different deletion genotypes have been described for this disorder, with a predominant 3 Mb deletion present in 90% of the cases, a less common 1.5-2 Mb deletion in 8%, and atypical smaller deletions in 2%. We have studied 15 cases of del22q11.2 from 6 families (two of them three-generation families) that were previously diagnosed through FISH. We have sized the… CONTINUE READING

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