Abstract
Normal levels of adenylate kinase (AK-1) and of α1-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.
Original language | English |
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Pages (from-to) | 17-19 |
Number of pages | 3 |
Journal | Human Genetics |
Volume | 82 |
Issue number | 1 |
DOIs | |
Publication status | Published - Apr 1989 |
ASJC Scopus subject areas
- Genetics(clinical)
- Genetics