| First Author | Zuffardi O | Year | 1989 |
| Journal | Hum Genet | Volume | 82 |
| Issue | 1 | Pages | 17-9 |
| PubMed ID | 2541064 | Mgi Jnum | J:9751 |
| Mgi Id | MGI:58208 | Doi | 10.1007/BF00288264 |
| Citation | Zuffardi O, et al. (1989) Regional assignment of the loci for adenylate kinase to 9q32 and for alpha 1-acid glycoprotein to 9q31-q32. A locus for Goltz syndrome in region 9q32-qter?. Hum Genet 82(1):17-9 |
| abstractText | Normal levels of adenylate kinase (AK-1) and of alpha 1-acid glycoprotein (ORM1) were found in a girl with a deletion 9q32-qter secondary to a maternal translocation (4q35; 9q32), thus excluding these loci from the deleted region. These results, and comparison with other informative data, map the locus for AK-1 to 9q32 and that for ORM1 to region 9q31-q32. The girl has several signs of the Goltz syndrome (Focal dermal hypoplasia), which is listed in the McKusick catalog (no. 30560) as an X-linked dominant condition. Our finding indicates that the locus for Golz syndrome is autosomal and in region 9q32-qter or that there are two such conditions, one autosomal and one X-linked. |
