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

M B Petersen; L Tranebjaerg; N Tommerup; P Nygaard; H Edwards

doi:10.1136/jmg.24.2.93

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

J Med Genet. 1987 Feb;24(2):93-6. doi: 10.1136/jmg.24.2.93.

Authors

M B Petersen, L Tranebjaerg, N Tommerup, P Nygaard, H Edwards

Abstract

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.

Publication types

Case Reports

MeSH terms

Adenosine Deaminase / deficiency
Adenosine Deaminase / genetics*
Child, Preschool
Chromosome Deletion*
Chromosome Mapping
Chromosomes, Human, Pair 20*
Facial Bones / abnormalities
Growth Disorders / enzymology
Growth Disorders / genetics
Humans
Intellectual Disability / enzymology
Intellectual Disability / genetics
Male
Nucleoside Deaminases / genetics*
Skull / abnormalities

Substances

Nucleoside Deaminases
Adenosine Deaminase