We report on the case of a patient with a typical de novo 3 Mb 22q11.2 deletion. Haplotype reconstruction of the family, using polymorphic markers flanking the deleted region, demonstrated a complex mechanism of origin of the deletion, involving one intrachromosomal and two interchromosomal events.
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| http://www.ncbi.nlm.nih.gov/pmc/articles/PMC2810960 | PMC |
| http://dx.doi.org/10.1002/ajmg.a.31834 | DOI Listing |
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