Molecular characterization of 22q11 dele
Molecular characterization of 22q11 deletion in a three-generation family with maternal transmission
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Iascone, Maria R. ;Vittorini, Simona ;Sacchelli, Monica ;Spadoni, Isabella ;Simi
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Article
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2002
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John Wiley and Sons
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English
⚖ 172 KB
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## Abstract Haploinsufficiency of chromosome 22q11.2 is a well‐established cause of both the DiGeorge anomaly and the velocardiofacial syndrome. This condition shows a continuous spectrum of phenotypic manifestations with a considerable inter‐ and intrafamilial variability. We report on a three‐gen