del(10)(q11.2q11.2)

Hirschsprung Disease Plus Syndrome

Epidemiology and Etiology:

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Common sites:

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Gross features:

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Histologic features:

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Immunophenotype:

Marker:

Sensitivity:

Specificity:

Molecular features:

· Hirschsprung chromosome region 1 (HSCR1)

· RET gene

Other features:

· RET / HSCR1 deletion:

· Hirschsprung disease

· Wider phenotype with loss of adjacent loci

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References:

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