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==Chromosome | ==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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* '''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. | |||
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! width=300px|Clinical Features | |||
! width=300px|Malformations (infrequently associated) | |||
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* high-pitched monochromatic cry | |||
* severe psychomotor retardation. | |||
* severe mental retardation. | |||
* microcephaly | |||
* broad nasal bridge | |||
* epicanthal folds | |||
* micrognathia | |||
* abnormal dermatoglyphics | |||
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* cardiac | |||
* other neurological | |||
* renal abnormalities | |||
* preauricular tags | |||
* syndactyly | |||
* hypospadias | |||
* cryptorchidism | |||
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:'''Links:''' [[Monosomy#Cri_du_Chat_Syndrome|Cri Du Chat Syndrome]] | [http://www.omim.org/entry/123450 OMIM123450] | [[Monosomy]] | |||
{{Genetic}}| | |||
===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. | |||
{{Footer}} | |||
[[Category:Genetics]][[Category:Cartoon]] |
Latest revision as of 10:03, 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.
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Clinical Features | Malformations (infrequently associated) |
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- Links: Cri Du Chat Syndrome | OMIM123450 | Monosomy
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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. (2024, April 26) Embryology Chromosome 5P deletions.jpg. Retrieved from https://embryology.med.unsw.edu.au/embryology/index.php/File:Chromosome_5P_deletions.jpg
- © Dr Mark Hill 2024, UNSW Embryology ISBN: 978 0 7334 2609 4 - UNSW CRICOS Provider Code No. 00098G
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