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Article

Deletions and duplications of the 22q11.2 region in spermatozoa from DiGeorge/velocardiofacial fathers

25 Nov 2014

Abstract excerpt

BACKGROUND: DiGeorge/velocardiofacial syndrome (DGS/VCFS) is the most common deletion syndrome in humans. Low copy repeats flanking the 22q11.2 region confer a substrate for non-allelic homologous recombination (NAHR) events leading to rearrangements. This study sought to identify DGS/VCFS fathers with increased susceptibility to deletions and duplications at the 22q11.2 region in spermatozoa and to assess the...

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Identifiers

PMID: 25435913
DOI: 10.1186/s13039-014-0086-3

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Deletions and duplications of the 22q11.2 region in spermatozoa from DiGeorge/velocardiofacial fathersPMID 25435913Read ↗

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