del(10)(p13)

Epidemiology and Etiology:

· Del(10)(p13)

· RARE cause of DGS phenotype (1 of 412 in one study)

· HDR locus may lie in this region

Common sites:

· Del(10)(p13)

Gross features:

· Del(10)(p13):

· “DiGeorge Syndrome II”

· Features not typical of DGS:

· Ptosis

· HDR locus:

· Renal dysplasia

Histologic features:

· Del(10)(p13)

· HDR locus:

· Renal dysplasia

Immunophenotype:

Marker:

Sensitivity:

Specificity:

Molecular features:

·

Other features:

· Del(10)(p13)

· DGS phenotype

· HDR locus:

· Hypoparathyroidism

· Sensorineural deafness (not typical of DGS)

· Renal dysplasia

References:

· Gardner RJM, Sutherland GR. Chromosome Abnormalities and Genetic Counseling. 2nd ed. Oxford University Press, USA; 1996.