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 journalArticle

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

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Focal Dermal Hypoplasia
Adenylate Kinase
Glycoproteins
Acids
Mothers

ASJC Scopus subject areas

  • Genetics(clinical)
  • Genetics

Cite this

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

In: Human Genetics, Vol. 82, No. 1, 04.1989, p. 17-19.

Research output: Contribution to journalArticle

Zuffardi, O, Caiulo, A, Maraschio, P, Tupler, R, Bianchi, E, Amisano, P, Beluffi, G, Moratti, R & Liguri, G 1989, '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?', Human Genetics, vol. 82, no. 1, pp. 17-19. https://doi.org/10.1007/BF00288264
Zuffardi, Orsetta ; Caiulo, Angela ; Maraschio, Paola ; Tupler, Rossella ; Bianchi, Elena ; Amisano, Paola ; Beluffi, G. ; Moratti, R. ; Liguri, G. / 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?. In: Human Genetics. 1989 ; Vol. 82, No. 1. pp. 17-19.
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AU - Caiulo, Angela

AU - Maraschio, Paola

AU - Tupler, Rossella

AU - Bianchi, Elena

AU - Amisano, Paola

AU - Beluffi, G.

AU - Moratti, R.

AU - Liguri, G.

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