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. 1989 Apr;82(1):17-9. doi: 10.1007/BF00288264.

Abstract

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.

Publication types

  • Case Reports
  • Research Support, Non-U.S. Gov't

MeSH terms

  • Adenylate Kinase / genetics*
  • Chromosome Deletion
  • Chromosomes, Human, Pair 9*
  • Female
  • Humans
  • Karyotyping
  • Orosomucoid / genetics*
  • Pedigree
  • Phosphotransferases / genetics*
  • Skin Abnormalities*
  • Syndrome
  • Translocation, Genetic

Substances

  • Orosomucoid
  • Phosphotransferases
  • Adenylate Kinase