Journal Mobile Options
Table of Contents
Vol. 127, No. 1, 2009
Issue release date: March 2010
Cytogenet Genome Res 2009;127:61–66

17q21.31 Microdeletion Syndrome: Further Expanding the Clinical Phenotype

Sharkey F.H. · Morrison N. · Murray R. · Iremonger J. · Stephen J. · Maher E. · Tolmie J. · Jackson A.P.
aMicroarray Facility, Regional Cytogenetics Laboratory, Western General Hospital, Edinburgh, bCytogenetics Department, and cFerguson Smith Centre for Clinical Genetics, Yorkhill Hospital, Glasgow, dDepartment of Paediatrics, Borders General Hospital, Melrose, and eMedical and Developmental Genetics Section, MRC Human Genetics Unit, Edinburgh, UK

Individual Users: Register with Karger 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


Microdeletions of the 17q21.31 region are associated with hypotonia, oromotor dyspraxia, an apparently characteristic face, moderate learning disability and have an estimated prevalence of approximately 1 in 16,000. Here we report 3 individuals who extend further the phenotypic spectrum observed with microdeletions of the 17q21.31 region. They all have learning disability, hypotonia, and craniofacial dysmorphism in keeping with previous reported cases. One case has iris-choroid coloboma and partial situs inversus, 2 features that are newly recorded phenotype abnormalities. These deletions were detected from a cohort of 600 individuals with learning disability and congenital anomalies, reflecting that 17q21.31 microdeletions are a common finding in such cases. FISH analysis demonstrated that each of the deletions occurred as de novo events. The deleted region in our cases encompasses the previously defined critical region for 17q21.31, and includes CRHR1 and MAPT, putative candidate genes for the 17q21.31 phenotype. The 17q21.31 microdeletion phenotype is perhaps more variable than previously described despite haploinsufficiency for the same genes in many cases.

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.


  1. Chong SS, Pack SD, Roschke AV, Tanigami A, Carrozzo R, et al: A revision of the lissencephaly and Miller-Dieker syndrome critical regions in chromosome 17p13.3. Hum Mol Genet 6:147–155 (1997).
  2. Dallapiccola B, Mingarelli R, Digillo C, Obregon MG, Gianotti A: Interstitial deletion del (17)(q21.3q23 or q24) syndrome. Clin Genet 43:54–55 (1993).
  3. Fantes JA, Boland E, Ramsay J, Splitt M, Goodship JA, et al: FISH mapping of de novo apparently balanced chromosome rearrangements identifies characteristics associated with phenotypic abnormality. Am J Hum Genet 82:916–926 (2008).
  4. Khalifa MM, MacLeod PM, Duncan AM: Additional case of de novo interstitial deletion del(17)(q21.3q23) and expansion of the phenotype. Clin Genet 44:258–261 (1993).
  5. Kirchhoff M, Bisgaard AM, Duno M, Hansen FJ, Schwartz M: A 17q21.311 microduplication, reciprocal to the newly described 17q21.311 microdeletion in a girl with severe psychomotor developmental delay and dysmorphic craniofacial features. Eur J Med Genet 50:256–263 (2007).
  6. Koolen DA, Vissers LELM, Pfundt R, de Leew N, Knight SJL, et al: A new chromosome 17q21.311 microdeletion syndrome associated with a common inversion polymophism. Nat Genet 38:999–1001 (2006).
  7. Koolen DA, Sharp AJ, Hurst JA, Firth HV, Knight SJL, et al: Clinical and molecular delineation of the 17q21.311 microdeletion syndrome. J Med Genet 11:710–720 (2008).

    External Resources

  8. Lupski JR: Genomic disorders: structural features of the genome can lead to DNA rearrangements and human disease traits. Trends Genet 14:417–422 (1998).
  9. Park JP, Moeschler JB, Berg SZ, Wurster-Hill DH: A unique de novo interstitial del(17) (q21.3q23) in a phenotypically abnormal infant. Clin Genet 41:54–56 (1992).
  10. Shaw-Smith C, Pittman AM, Willatt L, Martin H, Rickman L, et al: Microdeletion encompassing MAPT at chromosome 17q21.31 is associated with developmental delay and learning disability. Nat Genet 38:1032–1037 (2006).
  11. Tan TY, Aftimos S, Worgan L, Susman R, Wilson M, et al: Phenotypic expansion and further characterisation of the 17q21.31 microdeletion syndrome. J Med Genet 46:480–489 (2009).

Pay-per-View Options
Direct payment This item at the regular price: USD 38.00
Payment from account With a Karger Pay-per-View account (down payment USD 150) you profit from a special rate for this and other single items.
This item at the discounted price: USD 26.50