Journal Mobile Options
Table of Contents
Vol. 85, No. 3-4, 1999
Issue release date: 1999
Section title: Paper
Cytogenet Cell Genet 85:310–314 (1999)
(DOI:10.1159/000015284)

The novel contiguous gene syndrome of myotubular myopathy (MTM1), male hypogenitalism and deletion in Xq28:report of the first familial case

Bartsch O. · Kreß W. · Wagner A. · Seemanova E.
aInstitut für Klinische Genetik, Klinikum Carl Gustav Carus der Technischen Universität Dresden, Dresden; bInstitut für Humangenetik der Universität Würzburg, Würzburg (Germany); cDepartment of Clinical Genetics, Charles University Motol Hospital, Prague (Czech Republic)

Do you have an account?

Register and profit from personalized services (MyKarger) Login Information

Please create your User ID & Password





Contact Information









I have read the Karger Terms and Conditions and agree.

Register and profit from personalized services (MyKarger) Login Information

Please create your User ID & Password





Contact Information









I have read the Karger Terms and Conditions and agree.

To view the fulltext, please log in

To view the pdf, please log in

Buy

  • FullText & PDF
  • Unlimited re-access via MyKarger (new!)
  • Unrestricted printing, no saving restrictions for personal use
  • Reduced rates with a PPV account
read more

Direct: USD 38.00
Account: USD 26.50

Select

Rent/Cloud

  • Rent for 48h to view
  • Buy Cloud Access for unlimited viewing via different devices
  • Synchronizing in the ReadCube Cloud
  • Printing and saving restrictions apply

Rental: USD 8.50
Cloud: USD 20.00

Select

Subscribe

  • Automatic perpetual access to all articles of the subscribed year(s)
  • Unlimited re-access via Subscriber Login or MyKarger
  • Unrestricted printing, no saving restrictions for personal use
read more

Subcription rates


Select


Article / Publication Details

First-Page Preview
Abstract of Paper

Published online: 8/6/1999

Number of Print Pages: 5
Number of Figures: 4
Number of Tables: 0

ISSN: 1424-8581 (Print)
eISSN: 1424-859X (Online)

For additional information: http://www.karger.com/CGR

Abstract

Abstract.

Hu et al. (1996) and Laporte et al. (1997) recently proposed a novel contiguous gene syndrome of myotubular myopathy, abnormal male genital development and deletion in Xq28. We studied a family where two male infants, both deceased, had myotubular myopathy and intersexual genitalia. Using FISH we detected in the mother a hemizygous deletion including the myotubularin gene MTM1 and F18 (a gene of yet unknown function). DNA studies with STR-markers (short tandem repeats) within and flanking the deleted segment confirmed the deletion in the family and were used for prenatal diagnosis. Our findings confirm the existence of this novel contiguous gene syndrome and support that the deletion of the F18 gene, or a neighboring gene, may cause ambiguous genitalia or severe hypospadias in males. The mother had low muscle power and marked menstrual irregularities which may indicate that she is a manifesting carrier and that the deletion may include a gene (F18 or other) for gonadal function in females.


  

Author Contacts

Request reprints from Dr. O. Bartsch, Institut für Klinische Genetik,Universitätsklinik, Fetscherstr. 74, D–01307 Dresden (Germany);telephone: +49 351 458 2153; fax: +49 351 458 5385;e-mail: obartsch@rcs.urz.tu-dresden.de

  

Article Information

Supported by a grant awarded to O.B. from the Bundesministerium für Forschung, Wissenschaft und Technologie (BEO-0311211).

Received: Received 9 October 1998;
revision accepted 16 April 1999.
Number of Print Pages : 5
Number of Figures : 4, Number of Tables : 0, Number of References : 27

  

Publication Details

Cytogenetics and Cell Genetics
Founded 1962 as Cytogenetics by H.P. Klinger

Vol. 85, No. 3-4, Year 1999 (Cover Date: 1999)

Journal Editor: H.P. Klinger, Bronx, N.Y.
ISSN: 0301–0171 (print), 1422–9816 (Online)

For additional information: http://www.karger.com/journals/ccg


Article / Publication Details

First-Page Preview
Abstract of Paper

Published online: 8/6/1999

Number of Print Pages: 5
Number of Figures: 4
Number of Tables: 0

ISSN: 1424-8581 (Print)
eISSN: 1424-859X (Online)

For additional information: http://www.karger.com/CGR


Copyright / Drug Dosage

Copyright: All rights reserved. No part of this publication may be translated into other languages, reproduced or utilized in any form or by any means, electronic or mechanical, including photocopying, recording, microcopying, or by any information storage and retrieval system, without permission in writing from the publisher or, in the case of photocopying, direct payment of a specified fee to the Copyright Clearance Center.
Drug Dosage: The authors and the publisher have exerted every effort to ensure that drug selection and dosage set forth in this text are in accord with current recommendations and practice at the time of publication. However, in view of ongoing research, changes in goverment regulations, and the constant flow of information relating to drug therapy and drug reactions, the reader is urged to check the package insert for each drug for any changes in indications and dosage and for added warnings and precautions. This is particularly important when the recommended agent is a new and/or infrequently employed drug.
Disclaimer: The statements, opinions and data contained in this publication are solely those of the individual authors and contributors and not of the publishers and the editor(s). The appearance of advertisements or/and product references in the publication is not a warranty, endorsement, or approval of the products or services advertised or of their effectiveness, quality or safety. The publisher and the editor(s) disclaim responsibility for any injury to persons or property resulting from any ideas, methods, instructions or products referred to in the content or advertisements.