Human pathology

Constitutional deletions

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chromosomal deletions

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C

• chromosomal deletions
• constitutional 15q21 deletion
• cryptic subtelomeric rearrangements

D

• del(1)(p11p36)
• del(1)(p34.3p36.11)
• del(9q22.32-q33.2)
• deletion 12(q15-q21.2)

I

• interstitial chromosome 6 deletion

S

• subtelomeric deletions

T

• terminal 4q deletion

Keywords

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Molecular

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Physiological

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Physiopathological pathways

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Proteins

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• Malformation gene (24)
• Mutated in human diseases (523)
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• Proteic complexes (61)
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• Proteins (1340)
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Tumors

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Videos

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