Interstitial 7q deletion [46,XX,del(7)(pter → q21.1::q22 → qter)] and the location of genes for β-glucuronidase and cystic fibrosis
- 1 November 1988
- journal article
- research article
- Published by Wiley in American Journal of Medical Genetics
- Vol. 31 (3) , 655-661
- https://doi.org/10.1002/ajmg.1320310321
Abstract
We report on a patient with a de novo chromosome abnormality del(7)(q21.1q22). The cells of this patient were used to determine the assignment of the gene for the enzyme .β‐glucuronidase and the DNA probes around the cystic fibrosis gene—pJ3.11 and metH. Both the β‐glucuronidase gene and the DNA probes pJ3.11 and metH were found in 2 copies in our patient, indicating that neither locus lies in the deleted segment.Keywords
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