Difference between revisions of "File:Chromosome 5P deletions.jpg"

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==Chromosome 5P Deletions==
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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.
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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.
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* 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.
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* Vertical lines in p15.1, p14 and p13 refer to clinical symptoms reported in individual families with interstitial deletions.
  
 
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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.
 
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 resized and relabelled.
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Original figure 2 resized and relabelled.
  
 
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Revision as of 10:00, 23 April 2016

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, August 5) 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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