del(13)(q22q22)
Epidemiology and
Etiology:
·
Common sites:
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Gross features:
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Histologic
features:
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Immunophenotype:
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Marker: |
Sensitivity: |
Specificity: |
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Molecular features:
·
Hirschsprung chromosome
region 2 (HSCR2) at 13q22
·
EDNRB locus
Other features:
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EDNRB (HSCR2) loss :
References:
·
Gardner RJM, Sutherland GR. Chromosome Abnormalities and Genetic
Counseling. 2nd ed. Oxford University Press, USA; 1996.