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    J Med Genet. 1987 Feb;24(2):93-6.

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

    Petersen MB, Tranebjaerg L, Tommerup N, Nygaard P, Edwards H.

    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: 1049896

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