del(2)(q37)

Epidemiology and Etiology:

·

Common sites:

·

Gross features:

· Similar to Albright hereditary osteodystrophy

· Short stature

· Round facies

· Short metacarpals

·

Karyotype features:

· Subtle defect

Immunophenotype:

Marker:

Sensitivity:

Specificity:

Molecular features:

·

Other features:

· Intellectual deficit

References:

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