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Figure 1 | Orphanet Journal of Rare Diseases

Figure 1

From: Distal Xq duplication and functional Xq disomy

Figure 1

Schematic representation of a Xq duplication transmission. Active X and Y chromosomes are in grey, inactive X is striped in black. A yellow star represents XIC. a) normal XY chromosomes; b) Xq duplication in male leading to Xq functional disomy, associated with an abnormal phenotype; c) Xq duplication in female with inactivation pattern skewed towards the duplicated X, associated with a normal phenotype; d) Xq duplication in female with inactivation pattern skewed towards the normal X leading to Xq functional disomy, associated with an abnormal phenotype.

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Orphanet Journal of Rare Diseases

ISSN: 1750-1172