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:
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