New assignment of the adenosine deaminase gene locus to chromosome 20q13 X 11 by study of a patient with interstitial deletion 20q.
A karyotype 46,XY,del(20)(q11 X 23q13 X 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 X 11.
D000243:Adenosine Deaminase / Q000172:deficiency / Q000235:genetics*; D002675:Child, Preschool; D002872:Chromosome Deletion; D002874:Chromosome Mapping; D002890:Chromosomes, Human, Pair 20; D005147:Facial Bones / Q000002:abnormalities; D006130:Growth Disorders / Q000201:enzymology / Q000235:genetics; D006801:Humans; D008607:Intellectual Disability / Q000201:enzymology / Q000235:genetics; D008297:Male; D009700:Nucleoside Deaminases / Q000235:genetics*; D012886:Skull / Q000002:abnormalities
D009700:Nucleoside Deaminases; D000243:Adenosine Deaminase