of Abnormalities

Uniparental disomyRecurrent chromosomal syndromesRecombination at segmental duplicationsDuplication/deletion syndromes
Copy number variationIdiopathic chromosome abnormalitiesSporadic, variable breakpointsDeletion syndromes (cri du chat syndrome, 1p36 deletion syndrome)De novo balanced translocationsGene disruptionUnbalanced familial abnormalitiesUnbalanced segregationOffspring of balanced translocations
Offspring of pericentric inversionsSyndromes involving genomic imprintingAny event that reveals imprinted gene(s)Prader-Willi/Angelman syndromes

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Nov 27, 2016 | Posted by in GENERAL & FAMILY MEDICINE | Comments Off on of Abnormalities
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