Skip to main content
Log in

13q22.1-q32.1 Microdeletion Syndrome

  • Scientific Letter
  • Published:
The Indian Journal of Pediatrics Aims and scope Submit manuscript

This is a preview of subscription content, log in via an institution to check access.

Access this article

Price excludes VAT (USA)
Tax calculation will be finalised during checkout.

Instant access to the full article PDF.

Fig. 1

References

  1. Brown S, Gersen S, Anyane-Yeboa K, Warburton D. Preliminary definition of a “critical region” of chromosome 13 in q32: report of 14 cases with 13q deletions and review of the literature. Am J Med Genet. 1993;45:52–9.

    Article  CAS  PubMed  Google Scholar 

  2. Grigori P, Panayiotou E, Sismani C, et al. 21 Mb deletion in chromosome band 13q22.2q32.1 associated with mild/moderate psychomotor retardation, growth hormone insufficiency, short neck, micrognathia, hypotonia, dysplastic ears and other dysmorphic features. Eur J Med Genet. 2011;54:365–8.

    Article  PubMed  Google Scholar 

  3. Lamount MA, Fitchett M, Dennis NR. Interstitial deletion of distal 13q associated with Hirschsprung’s disease. J Med Genet. 1898;26:100–4.

    Article  Google Scholar 

  4. Alp MY, Cebi AH, Seyhan S, Cansu A, Hatip A, Ikbal M. 22.5 MB deletion of 13q31.1-q34 association with HPE, DWM, and HSCR: a case reporter and redefining the smallest deleted regions. Genet Couns. 2016;27:43–9.

    CAS  PubMed  Google Scholar 

  5. Kirchhoff M, Bisgaard AM, Stoeva R, et al. Phenotype and 244k array-CGH characterization of chromosome 13q deletions: an update of the phenotypic map of 13q21.1-qter. Am J Med Genet A. 2009;149A:894–905.

    Article  CAS  PubMed  Google Scholar 

Download references

Acknowledgements

We thank the parents for allowing us to use the data.

Author information

Authors and Affiliations

Authors

Corresponding author

Correspondence to Chao-Chun Zou.

Ethics declarations

Conflict of Interest

None.

Source of Funding

This project is supported by Zhejiang Provincial Natural Science Foundation (LR13H090002) and Zhejiang Provincial Program for the Cultivation of High-Level Innovative Health Talents (2016).

Rights and permissions

Reprints and permissions

About this article

Check for updates. Verify currency and authenticity via CrossMark

Cite this article

Li, MW., Zou, XY. & Zou, CC. 13q22.1-q32.1 Microdeletion Syndrome. Indian J Pediatr 86, 303–305 (2019). https://doi.org/10.1007/s12098-018-2789-7

Download citation

  • Received:

  • Accepted:

  • Published:

  • Issue Date:

  • DOI: https://doi.org/10.1007/s12098-018-2789-7

Navigation