Literature DB >> 3177468

A family with the Coffin Lowry syndrome revisited: localization of CLS to Xp21-pter.

M W Partington1, J C Mulley, G R Sutherland, A Thode, G Turner.   

Abstract

We revisited a family with the Coffin-Lowry syndrome (CLS) first reported by Procopis and Turner in 1972. Twelve affected members are now known in 3 generations of which 9 were seen personally. DNA marker studies supported X-linkage with localization of CLS to Xp near DXS43 at p22.2-22.1 (theta = 0.001 Z = 2.71). Such linkage is reinforced by positive lod scores for DXS28 (theta = 0.00, Z = 0.90) and for DXS84 (theta = 0.09, Z = 1.56). Recombination with DXS84 and DXS164 places CLS distal to DMD in Xp21-pter.

Entities:  

Mesh：

Substances：

Year:  1988        PMID： 3177468     DOI： 10.1002/ajmg.1320300153

Source DB:  PubMed          Journal:  Am J Med Genet        ISSN： 0148-7299


  7 in total

1.  Genetic mapping of 12 marker loci in the Xp22.3-p21.2 region.

Authors:  T Alitalo; T A Kruse; P Ahrens; H M Albertsen; A W Eriksson; A de la Chapelle
Journal:  Hum Genet       Date:  1991-04       Impact factor: 4.132

2.  Isolated neurodevelopmental delay in childhood: clinicoradiological correlation in 170 patients.

Authors:  P Demaerel; D P Kingsley; B E Kendall
Journal:  Pediatr Radiol       Date:  1993

3.  "Cataplexy" and muscle ultrasound abnormalities in Coffin-Lowry syndrome.

Authors:  Y J Crow; S M Zuberi; R McWilliam; J L Tolmie; A Hollman; K Pohl; J B Stephenson
Journal:  J Med Genet       Date:  1998-02       Impact factor: 6.318

4.  Confirmation and refinement of the genetic localization of the Coffin-Lowry syndrome locus in Xp22.1-p22.2.

Authors:  V Biancalana; M L Briard; A David; S Gilgenkrantz; J Kaplan; M Mathieu; C Piussan; J Poncin; A Schinzel; C Oudet
Journal:  Am J Hum Genet       Date:  1992-05       Impact factor: 11.025

Review 5.  Coffin-Lowry syndrome: clinical and molecular features.

Authors:  A Hanauer; I D Young
Journal:  J Med Genet       Date:  2002-10       Impact factor: 6.318

6.  Mechanical ventilation in Coffin-Lowry syndrome: a case report.

Authors:  Edmilson Bastos de Moura; Érica Leal Teixeira de Moura; Fábio Ferreira Amorim; Vânia Maria Oliveira
Journal:  Rev Bras Ter Intensiva       Date:  2016 Oct-Dec

7.  The natural history of spinal deformity in patients with Coffin-Lowry syndrome.

Authors:  M Welborn; S Farrell; P Knott; E Mayekar; S Mardjetko
Journal:  J Child Orthop       Date:  2018-02-01       Impact factor: 1.548
  7 in total

北京卡尤迪生物科技股份有限公司 © 2022-2023.