Inv dup (8p)

Epidemiology and Etiology:

· Most often arises through NAHR during maternal meiosis between LCR sequences made up of the olfactory receptor gene clusters

· In many cases the mothers carry an inversion between the two olfactory receptor gene clusters

· Present in 26% of the European population

· Likely causes susceptibility for this rearrangement

· Also may arise from U-type exchange

Common sites:

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Gross features:

· inv dup del (8) (variable – duplication of region from REPP to up to centromere)

· facial dysmorphisms

· agenesis of corpus collosum

· congenital heart disease

· others

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Histologic features:

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Immunophenotype:

Marker:

Sensitivity:

Specificity:

Molecular features:

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Other features:

· inv dup (8)(p23.1p___) (variable – from REPP to up to centromere)

· significant developmental delay

· mental retardation

· no reports of recurrences in family members

References:

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