New assignment of the adenosine deaminase gene locus to chromosome 20q13·11 by study of a patient with interstitial deletion 20q

Abstract

A karyotype 46,XY,del(20)(q11·23q13·11) was found in a three year old boy with mental and growth retardation, low set ears, broad nasal bridge, and macrostomia. Adenosine deaminase (ADA) activity was reduced by about 50%, assigning the gene locus to the deleted segment. A review of the previously reported regional assignments suggests that the ADA gene is in the region of band 20q13·11.