Homozygous 22q11.2 distal type II microdeletion is associated with syndromic neurodevelopmental delay
Somaya Salah,
Hiba Jaber,
Ayala Frumkin
et al.
Abstract:Genomic disorders result from heterozygous copy number variants (CNVs). Homozygous deletions spanning numerous genes are rare, despite the potential contribution of consanguinity to such instances. CNVs in the 22q11.2 region are mediated by nonallelic homologous recombination between pairs of low copy repeats (LCRs), from amongst eight LCRs designated A‐H. Heterozygous distal type II deletions (LCR‐E to LCR‐F) have incomplete penetrance and variable expressivity, and can lead to neurodevelopmental issues, mino… Show more
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