Regional assignment of the loci for adenylate kinase to 9q32 and for α1-acid glycoprotein to 9q31-q32 - A locus for Goltz syndrome in region 9q32-qter?

Orsetta Zuffardi, Angela Caiulo, Paola Maraschio, Rossella Tupler, Elena Bianchi, Paola Amisano, G. Beluffi, R. Moratti, G. Liguri

Research output: Contribution to journalArticlepeer-review

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 languageEnglish
Pages (from-to)17-19
Number of pages3
JournalHuman Genetics
Volume82
Issue number1
DOIs
Publication statusPublished - Apr 1989

ASJC Scopus subject areas

  • Genetics(clinical)
  • Genetics

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