-
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.
PMID: 3560174 [PubMed - indexed for MEDLINE]
PMCID: PMC1049896
-
Cited by 6 PubMed Central articles
-
ReviewChromosome 20 long arm deletion in an elderly malformed man.
Shabtai F, Ben-Sasson E, Arieli S, Grinblat J.
J Med Genet. 1993 Feb; 30(2):171-3.
[J Med Genet. 1993]
-
Severe combined immune deficiency due to a homozygous 3.2-kb deletion spanning the promoter and first exon of the adenosine deaminase gene.
Berkvens TM, Gerritsen EJ, Oldenburg M, Breukel C, Wijnen JT, van Ormondt H, Vossen JM, van der Eb AJ, Meera Khan P.
Nucleic Acids Res. 1987 Nov 25; 15(22):9365-78.
[Nucleic Acids Res. 1987]
-
Expression of human adenosine deaminase in murine hematopoietic cells.
Belmont JW, MacGregor GR, Wager-Smith K, Fletcher FA, Moore KA, Hawkins D, Villalon D, Chang SM, Caskey CT.
Mol Cell Biol. 1988 Dec; 8(12):5116-25.
[Mol Cell Biol. 1988]
- » See all...