Monosomy: Difference between revisions

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A  partial monosomy  syndrome in humans is seen in Cri du Chat (cat's cry) syndrome associated with a piece of chromosome 5 is missing.
A  partial monosomy  syndrome in humans is seen in Cri du Chat (cat's cry) syndrome associated with a piece of chromosome 5 is missing.


Other described autosomal monosomies include chromosome 3, 7, 18p<ref name=PMID18284672f><pubmed>18284672</pubmed>| [http://www.ncbi.nlm.nih.gov/pmc/articles/PMC2265258 PMC2265258] | [http://www.ojrd.com/content/3/1/4 Orphanet J Rare Dis.]</ref> and 21.
Other described autosomal monosomies include chromosome 3, 7, 11, 18p<ref name=PMID18284672f><pubmed>18284672</pubmed>| [http://www.ncbi.nlm.nih.gov/pmc/articles/PMC2265258 PMC2265258] | [http://www.ojrd.com/content/3/1/4 Orphanet J Rare Dis.]</ref> and 21.




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A flat midface, mild ptosis, large ears with detached pinnae and short protruding upper lip.
A flat midface, mild ptosis, large ears with detached pinnae and short protruding upper lip.
==Jacobsen Syndrome==
Jacobsen syndrome (JS) is a rare partial deletion of the long arm of chromosome 11.<ref name=PMID19267933><pubmed>19267933</pubmed>| [http://www.ojrd.com/content/4/1/9 Orphanet J Rare Dis.]</ref>


== References ==  
== References ==  

Revision as of 10:45, 12 January 2015

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Educational Use Only - Embryology is an educational resource for learning concepts in embryological development, no clinical information is provided and content should not be used for any other purpose.

Introduction

Monosomy refers to the presence of only one chromosome from the normal pair in the embryo. A partial monosomy is when there is only one copy of a segment of a chromosome present.

A complete monosomy syndrome in female humans is seen in Turner syndrome (Monosomy X) associated with either a missing or altered second X chromosome.

A partial monosomy syndrome in humans is seen in Cri du Chat (cat's cry) syndrome associated with a piece of chromosome 5 is missing.

Other described autosomal monosomies include chromosome 3, 7, 11, 18p[1] and 21.


Genetic Links: genetic abnormalities | maternal age | Trisomy 21 | Trisomy 18 | Trisomy 13 | Trisomy X | trisomy mosaicism | Monosomy | Fragile X | Williams | Alagille | Philadelphia chromosome | mitochondria | VACTERL | hydatidiform mole | epigenetics | Prenatal Diagnosis | Neonatal Diagnosis | meiosis | mitosis | International Classification of Diseases | genetics

| Genital System - Abnormalities

Some Recent Findings

  • A case-control study of brain structure and behavioral characteristics in 47,XXX syndrome[2]
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Prenatal Diagnosis

The most common prenatal diagnosis is by either amniocentesis or chorionic villi sampling.

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:Monosomy 18p Syndrome

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Monosomy 18p syndrome facial features[1]

A flat midface, mild ptosis, large ears with detached pinnae and short protruding upper lip.

Jacobsen Syndrome

Jacobsen syndrome (JS) is a rare partial deletion of the long arm of chromosome 11.[3]


References

  1. ↑ 1.0 1.1 <pubmed>18284672</pubmed>| PMC2265258 | Orphanet J Rare Dis.
  2. ↑ <pubmed>25287572</pubmed>
  3. ↑ <pubmed>19267933</pubmed>| Orphanet J Rare Dis.

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Cite this page: Hill, M.A. (2024, May 4) Embryology Monosomy. Retrieved from https://embryology.med.unsw.edu.au/embryology/index.php/Monosomy

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