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Official Journal of the Human Genome Organisation

Table 3 Genomic diseases resulting from recurrent genomic rearrangements

From: Disorders of the genome architecture: a review

Rearrangement

Type

Recombination substrates

Repeat size

Identity (%)

Orientation

Type

Inv dup(15)(q11q13)

Inverted dup

>500

 

C

 

Inv dup(22)(q11.2)

Inverted dup

~225–400

97–98

C

 

Idic(X)(p11.2)

Isodicentric

  

I?

 

Inv dup(8)(pterp23.1::p23.2pter); Del(8)(p23.1p23.2)

inv/dup/del

~400

95–97

I

Olfactory receptor gene cluster

dup(15)(q24q26)

dup

~13–60

 

?

 
  1. del, deletion; dup, duplication; inv, inversion; D, direct; C, complex; I, inverted