PMID: 2486209Oct 1, 1989Paper

A summary of 7q interstitial deletions and exclusion mapping of the gene for beta-glucuronidase

Journal of Medical Genetics
K FaganB Carey

Abstract

Three patients are described with different phenotypes and differing de novo interstitial deletions of the long arm of a chromosome 7. The first patient has a deletion with loss of the proximal 7q11.23 band. Only three other cases have been reported with this particular deletion. Our second case shows mild dysmorphism similar to the other four patients reported with deletion of bands 7q21.12----21.3. Our third patient has a deletion of the 7q22.1----32.2 segment and has many of the phenotypic features of the other reported cases of del 7q22----32. GUSB, the gene for beta-glucuronidase, has been localised to the 7cen----q22 region. Analysis of beta-glucuronidase levels in blood leucocytes of our patients has helped more precisely to assign this gene locus to 7q21.11 or 7q22.1.

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Citations

Mar 1, 1997·Blood Reviews·E Johnson, F E Cotter
May 1, 1994·Journal of Medical Genetics·E D'AlessandroG Del Porto
Sep 1, 1994·Journal of Medical Genetics·K FaganA Colley
Oct 18, 2011·American Journal of Medical Genetics. Part a·Zuhair N Al-HassnanNamik Kaya
Jan 20, 2000·Baillière's Clinical Haematology·F E Cotter
Apr 21, 2016·American Journal of Medical Genetics. Part C, Seminars in Medical Genetics·Olivia L KatzSarah E Noon
Mar 3, 2007·American Journal of Medical Genetics. Part a·P A LennonC A Bacino
Feb 26, 2005·American Journal of Medical Genetics. Part a·Winnie CourtensMarkus M Nöthen
Sep 15, 1992·American Journal of Medical Genetics·P J GillarC M Moore
Mar 13, 1995·American Journal of Medical Genetics·C McElveenY Lacassie
Feb 14, 2006·American Journal of Medical Genetics. Part a·Susan ZeesmanStephen W Scherer
Nov 15, 2000·American Journal of Medical Genetics·A MégarbanéM Prieur
Feb 5, 2005·Fetal Diagnosis and Therapy·Zerrin YilmazFeride I Sahin
Jan 1, 1997·Hematology·F E Cotter, E Johnson
Jan 27, 2019·Cellular and Molecular Life Sciences : CMLS·Emeline BollaertJean-Baptiste Demoulin
Dec 7, 2011·Pediatrics·Chiara PalkaGiandomenico Palka

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