title: 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?
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.
authors.affiliation: Dipartimento di Scienze Biochimiche, Università di Firenze, Italy.
authors.forename: O
authors.initials: O
authors.lastname: Zuffardi
authors.forename: A
authors.initials: A
authors.lastname: Caiulo
authors.forename: P
authors.initials: P
authors.lastname: Maraschio
authors.forename: R
authors.initials: R
authors.lastname: Tupler
authors.forename: E
authors.initials: E
authors.lastname: Bianchi
authors.forename: P
authors.initials: P
authors.lastname: Amisano
authors.forename: G
authors.initials: G
authors.lastname: Beluffi
authors.forename: R
authors.initials: R
authors.lastname: Moratti
authors.forename: G
authors.initials: G
authors.lastname: Liguri
mesh_terms: D000263:Adenylate Kinase / Q000235:genetics*; D002872:Chromosome Deletion; D002899:Chromosomes, Human, Pair 9; D005260:Female; D006801:Humans; D007621:Karyotyping; D009961:Orosomucoid / Q000235:genetics*; D010375:Pedigree; D010770:Phosphotransferases / Q000235:genetics*; D012868:Skin Abnormalities; D013577:Syndrome; D014178:Translocation, Genetic
chemical_list: D009961:Orosomucoid; D010770:Phosphotransferases; D000263:Adenylate Kinase