New assignment of the adenosine deaminase gene locus to chromosome 20q13 X 11 by study of a patient with interstitial deletion 20q.
- 1 February 1987
- journal article
- research article
- Published by BMJ in Journal of Medical Genetics
- Vol. 24 (2) , 93-96
- https://doi.org/10.1136/jmg.24.2.93
Abstract
A karyotype 46,XY,del(20)(q11.cntdot.23q13.cntdot.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.cntdot.11.This publication has 8 references indexed in Scilit:
- Report of the committee on the genetic constitution of chromosomes 20, 21, and 22Cytogenetic and Genome Research, 1985
- Purine Metabolizing Enzymes in Lymphocytes from Patients with Solid TumorsActa Medica Scandinavica, 1984
- Confirmation of the regional localization of the genes for human acid alpha‐glucosidase (GAA) and adenosine deaminase (ADA) by somatic cell hybridizationAnnals of Human Genetics, 1984
- PARTIAL MONOSOMY 20Q - A NEW SYNDROME - REGIONAL ASSIGNMENT OF THE ADA LOCUS ON 20Q1321981
- Partial trisomy 20 confirmed by gene dosage studiesAmerican Journal of Medical Genetics, 1979
- Human adenosine deaminase and chromosome 20Cellular and Molecular Life Sciences, 1978
- Specific chromosomal aberrations in polycythemia veraBlood, 1976
- Detection of the Carrier State in Combined Immunodeficiency Disease Associated with Adenosine Deaminase DeficiencyJournal of Clinical Investigation, 1974