File:Chromosome 5P deletions.jpg

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Chromosome 5p Deletions

Chromosome 5p Deletion Syndrome or "Cri du Chat" (cat's cry) is a partial monosomy syndrome occurring in humans (1:15,000 to 1:50,000 live-born infants) associated with a piece of chromosome 5 is missing.

  • Vertical lines indicate the critical regions for the cry in p15.3, and for the other signs of Cri du Chat syndrome in p15.2.
  • Vertical lines in p15.1, p14 and p13 refer to clinical symptoms reported in individual families with interstitial deletions.
Clinical Features Malformations (infrequently associated)
  • high-pitched monochromatic cry
  • severe psychomotor retardation.
  • severe mental retardation.
  • microcephaly
  • broad nasal bridge
  • epicanthal folds
  • micrognathia
  • abnormal dermatoglyphics
  • cardiac
  • other neurological
  • renal abnormalities
  • preauricular tags
  • syndactyly
  • hypospadias
  • cryptorchidism
Links: Cri Du Chat Syndrome | OMIM123450 | Monosomy

Reference

<pubmed>16953888</pubmed>

Copyright

© Mainardi. 2006 This article is published under license to BioMed Central Ltd. This is an Open Access article distributed under the terms of the Creative Commons Attribution License (http://creativecommons.org/​licenses/​by/​2.​0), which permits unrestricted use, distribution, and reproduction in any medium, provided the original work is properly cited.

Original figure 2 resized and relabelled.


Cite this page: Hill, M.A. (2021, June 17) Embryology Chromosome 5P deletions.jpg. Retrieved from https://embryology.med.unsw.edu.au/embryology/index.php/File:Chromosome_5P_deletions.jpg

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© Dr Mark Hill 2021, UNSW Embryology ISBN: 978 0 7334 2609 4 - UNSW CRICOS Provider Code No. 00098G

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