Difference between revisions of "2011 Group Project 2"

From Embryology
Line 4: Line 4:
 
== Introduction==
 
== Introduction==
  
A congenital disorder is one which is present at birth. They are often abnormalities that arise from errors that occur during development of the fetus. Some congenital abnormalities are genetic, and often run in families while others are spontaneous and have no genetic linkages. DiGeorge syndrome is a congenital abnormality that is caused by the deletion of a part of chromosome 22. The symptoms and severity of the condition is thought to be dependent upon what part of and how much of the chromosome is absent. [http://www.ncbi.nlm.nih.gov/books/NBK22179/].  
+
A congenital disorder is one which is present at birth. They are often abnormalities that arise from errors that occur during development of the fetus. Some congenital abnormalities are genetic, and often run in families while others are spontaneous and have no genetic linkages. DiGeorge syndrome is a congenital abnormality that is caused by the deletion of a part of chromosome 22. The symptoms and severity of the condition is thought to be dependent upon what part of and how much of the chromosome is absent. [<ref>http://www.ncbi.nlm.nih.gov/books/NBK22179/</ref>]. About 1/4000 children born are affected by DiGeorge syndrome, with 90% of these cases involving a deletion of a section of chromosome 22 [<ref>http://www.bbc.co.uk/health/physical_health/conditions/digeorge1.shtml</ref>].  
  
 
DiGeorge is a complex syndrome and patient cases vary greatly. The common symptoms present across numerous patients include
 
DiGeorge is a complex syndrome and patient cases vary greatly. The common symptoms present across numerous patients include
Line 18: Line 18:
 
* Increased susceptibility to infections
 
* Increased susceptibility to infections
  
* Hypoplasia or absence of the thyroid and parathyroid glands [http://emedicine.medscape.com/article/135711-overview]
+
* Hypoplasia or absence of the thyroid and parathyroid glands [<ref>http://emedicine.medscape.com/article/135711-overview</ref>]
 +
 
 +
DiGeorge is quite often a spontaneous mutation, but it may be passed on in an autosomal dominant fashion. Some families have many members affected.
 +
 
 +
DiGeorge is a serious syndrome affecting many of the body systems. Additionally, there is currently no treatment and as such education is vital. [<ref>http://www.bbc.co.uk/health/physical_health/conditions/digeorge1.shtml</ref>]
  
 
==Historical Background==
 
==Historical Background==

Revision as of 12:57, 18 August 2011

Note - This page is an undergraduate science embryology student group project 2011.
2011 Projects: Turner Syndrome | DiGeorge Syndrome | Klinefelter's Syndrome | Huntington's Disease | Fragile X Syndrome | Tetralogy of Fallot | Angelman Syndrome | Friedreich's Ataxia | Williams-Beuren Syndrome | Duchenne Muscular Dystrolphy | Cleft Palate and Lip


Introduction

A congenital disorder is one which is present at birth. They are often abnormalities that arise from errors that occur during development of the fetus. Some congenital abnormalities are genetic, and often run in families while others are spontaneous and have no genetic linkages. DiGeorge syndrome is a congenital abnormality that is caused by the deletion of a part of chromosome 22. The symptoms and severity of the condition is thought to be dependent upon what part of and how much of the chromosome is absent. [[1]]. About 1/4000 children born are affected by DiGeorge syndrome, with 90% of these cases involving a deletion of a section of chromosome 22 [[2]].

DiGeorge is a complex syndrome and patient cases vary greatly. The common symptoms present across numerous patients include

  • Abnormal faces
  • Congenital heart defects
  • Hypoparathyroidism with hypocalcemia
  • Cognitive, behavioral, and psychiatric problems
  • Increased susceptibility to infections
  • Hypoplasia or absence of the thyroid and parathyroid glands [[3]]

DiGeorge is quite often a spontaneous mutation, but it may be passed on in an autosomal dominant fashion. Some families have many members affected.

DiGeorge is a serious syndrome affecting many of the body systems. Additionally, there is currently no treatment and as such education is vital. [[4]]

Historical Background

Epidemiology

Etiology

Pathogenesis

Dianostic Tests

Clinical Manifestations

Treatment

Further research possibilities

Glossary

References


2011 Projects: Turner Syndrome | DiGeorge Syndrome | Klinefelter's Syndrome | Huntington's Disease | Fragile X Syndrome | Tetralogy of Fallot | Angelman Syndrome | Friedreich's Ataxia | Williams-Beuren Syndrome | Duchenne Muscular Dystrolphy | Cleft Palate and Lip