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Official Journal of the Human Genome Organisation

Fig. 1 | The HUGO Journal

Fig. 1

From: Implications of copy number variation in people with chromosomal abnormalities: potential for greater variation in copy number state may contribute to variability of phenotype

Fig. 1

Mechanisms of phenotypic variability in trisomy resulting from copy number variation. Amplification of gene copy number during non-disjunction (NDJ) can result in a range of copy number states. Where dosage-sensitive genes are involved, this may result in a wide range of associated phenotypes. This figure illustrates a number of different potential outcomes for a single gene which is susceptible to duplication and/or deletion. a illustrates the difference between meiosis I (MI) and meiosis II (MII) NDJ occurring in parent A; bd illustrate just three of the possible scenarios resulting from NDJ in parent A if gene duplications are present in one or both parents, each of which could result in over-expression of a dosage-sensitive gene; e illustrates how a deletion on parent B and MII NDJ in parent A, however, that leads to a total of two copies of the gene in the trisomic child which could potentially ameliorate the pathological effects of trisomy

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