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==Chromosome 5P Deletions==
==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.
{|
|-bgcolor="CEDFF2"
! width=300px|Clinical Features
! width=300px|Malformations (infrequently associated)
|-
|
* high-pitched monochromatic cry
* severe psychomotor retardation.
* severe mental retardation.
* microcephaly
* broad nasal bridge
* epicanthal folds
* micrognathia
* abnormal dermatoglyphics
| valign=top|
* cardiac
* other neurological
* renal abnormalities
* preauricular tags
* syndactyly
* hypospadias
* cryptorchidism
|}
:'''Links:''' [[Monosomy#Cri_du_Chat_Syndrome|Cri Du Chat Syndrome]] | [http://www.omim.org/entry/123450 OMIM123450] | [[Monosomy]]
===Reference===
<pubmed>16953888</pubmed>
{{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. (2024, April 16) 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 2024, UNSW Embryology ISBN: 978 0 7334 2609 4 - UNSW CRICOS Provider Code No. 00098G

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