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Chromosome inversion disorder
A type of chromosome rearrangement in which a segment has been turned through 180 degrees (inverted), and inserted back into its original location on the chromosome. [from NCI]
Congenital chromosomal disease
A disorder that results from a chromosomal abnormality. [from NCI]
Sex reversal
Development of the reproductive system is inconsistent with the chromosomal sex. [from HPO]
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