Literature DB >> 539601

Pentasomy X with multiple dislocations.

R F Dryer, S R Patil, H U Zellweger, J M Simpson, J W Hanson, C Aschenbrenner, S L Weinstein.   

Abstract

We describe a pentasomy X (49,XXXXX) patient whose multiple dislocations led to a consideration of the Larsen syndrome. Review of the 11 reported cases of pentasomy X showed that elbow dislocations are known to occur in this syndrome. Our patient is the first to present hypoplasia of the glenoid process with consequent should dislocation. Clinical and radiologic findings of previously reported cases of pentasomy X are reviewed.

Entities:  

Mesh:

Year:  1979        PMID: 539601     DOI: 10.1002/ajmg.1320040402

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


  3 in total

1.  Congenital knee dislocation in a 49,XXXXY boy.

Authors:  R H Sijmons; A J van Essen; J D Visser; M Iprenburg; G F Nelck; M L Vos-Bender; B de Jong
Journal:  J Med Genet       Date:  1995-04       Impact factor: 6.318

2.  A new case of prenatally diagnosed pentasomy x: review of the literature.

Authors:  Linda Maria Azzurra Pirollo; Leila Baghernajad Salehi; Simona Sarta; Marco Cassone; Maria Vittoria Capogna; Emilio Piccione; Giuseppe Novelli; Adalgisa Pietropolli
Journal:  Case Rep Obstet Gynecol       Date:  2015-01-29

3.  Detailed analysis of X chromosome inactivation in a 49,XXXXX pentasomy.

Authors:  Lucia M Moraes; Leila Ca Cardoso; Vera Ls Moura; Miguel Am Moreira; Albert N Menezes; Juan C Llerena; Héctor N Seuánez
Journal:  Mol Cytogenet       Date:  2009-10-07       Impact factor: 2.009

  3 in total

北京卡尤迪生物科技股份有限公司 © 2022-2023.