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

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==Chromosome 5P Deletions==
 
==Chromosome 5P Deletions==
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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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{|
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|-bgcolor="CEDFF2"
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! width=300px|Clinical Features
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! width=300px|Malformations (infrequently associated)
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|-
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|
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* high-pitched monochromatic cry
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* severe psychomotor retardation.
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* severe mental retardation.
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* microcephaly
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* broad nasal bridge
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* epicanthal folds
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* micrognathia
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* abnormal dermatoglyphics
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| valign=top|
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* cardiac
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* other neurological
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* renal abnormalities
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* preauricular tags
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* syndactyly
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* hypospadias
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* cryptorchidism
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|}
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:'''Links:''' [[Monosomy#Cri_du_Chat_Syndrome|Cri Du Chat Syndrome]] | [http://www.omim.org/entry/123450 OMIM123450] | [[Monosomy]]
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===Reference===
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<pubmed>16953888</pubmed>
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{{Footer}}

Revision as of 09:58, 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.

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>


Cite this page: Hill, M.A. (2021, September 19) 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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