22q11.2 Deletion Syndrome

Satyajit Venkata Vure

@satyajitv

2 members

Causes, symptoms, diagnostic procedures and criteria, treatments and prognoses for 22q11.2 Deletion Syndrome, also known as DiGeorge syndrome or DiGeorge anomoly, a genetic disorder that affects a number of major body systems.

Grabs

Hearts

Comments

Satyajit Venkata Vure

@satyajitv

2 members

Causes, symptoms, diagnostic procedures and criteria, treatments and prognoses for 22q11.2 Deletion Syndrome, also known as DiGeorge syndrome or DiGeorge anomoly, a genetic disorder that affects a number of major body systems.

22q11.2 Deletion Syndrome - Patient Info

In 1965 DiGeorge described a patient with hypoparathyroidism and cellular immune deficiency secondary to thymic hypoplasia. Soon the pattern of malformation included in this syndrome expanded to include other defects of third and fourth branchial arches as well as dysmorphic facial features.
http://patient.info/doctor/22q112-deletion-syndrome
What Is Chromosome 22q11.2 Deletion Syndrome, and Why Do You Need to Know? - Medscape

The chromosome 22q11.2 deletion is the most common microdeletion syndrome, which is actually quite perplexing because it's a condition that most clinicians have not heard about, partially due to the fact that it has had multiple names over the years.
http://www.medscape.com/viewarticle/866043
22q11.2 Deletion Syndrome - NIH

22q11.2 deletion syndrome (which is also known by several other names, listed below) is a disorder caused by the deletion of a small piece of chromosome 22. The deletion occurs near the middle of the chromosome at a location designated q11.2.
https://ghr.nlm.nih.gov/condition/22q112-deletion-syndrome
22q11.2 Deletion Syndrome - Stanford Children

22q11.2 deletion syndrome is a genetic disorder. In this syndrome, a tiny piece of chromosome 22 is missing. This can cause many medical problems. These problems may range from heart defects and developmental delays to seizures and effects on facial appearance. These might include cleft palate (an opening in the roof of the mouth).
http://www.stanfordchildrens.org/en/topic/default?id=22q112-deletion-syndrome-90-P01682
The 22q11 Deletion Syndromes

DiGeorge syndrome, velocardiofacial syndrome and various other malformations have been described in association with deletions and translocations involving human chromosome 22q11.
http://hmg.oxfordjournals.org/content/9/16/2421.full
22q Fact Sheets

22q Deletion Syndrome (22q DS), which is also known as DiGeorge syndrome and Velo-Cardio-Facial syndrome, can affect many different parts of the body.
http://www.sickkids.ca/CGenetics/What-we-do/22q-deletion-syndrome-clinic/Meet-the-22q-team/index.html
DiGeorge Syndrome - Mayo Clinic

DiGeorge syndrome (22q11.2 deletion syndrome) - Comprehensive overview covers causes, symptoms and treatment of this chromosomal disorder.
http://www.mayoclinic.org/diseases-conditions/digeorge-syndrome/basics/definition/con-20031464
What is 22q11.2 Deletion Syndrome?

22q11.2 deletion syndrome is a genetic disorder. In this syndrome, a tiny piece of chromosome 22 is missing. This can cause many medical problems.
https://www.urmc.rochester.edu/Encyclopedia/Content.aspx?ContentTypeID=90
Chromosome 22q11.2 Deletion Syndrome - NORD (National Organization for Rare Disorders)

Chromosome 22q11.2 deletion syndrome is associated with a range of problems including: congenital heart disease, palate abnormalities, immune system dysfunction including autoimmune disease, low calcium (hypocalcemia) and other endocrine abnormalities.
https://rarediseases.org/rare-diseases/chromosome-22q11-2-deletion-syndrome/
DiGeorge Syndrome - Wikipedia, the Free Encyclopedia

22q11.2DS is the most common microdeletion syndrome characterized by low copy repeats and the deletion occurs near the middle of the chromosome at a location designated 22q11.2 - signifying its location on the long arm of one of the pair of chromosomes 22, on region 1, band 1, sub-band 2.
https://en.wikipedia.org/wiki/DiGeorge_syndrome
About 22q11.2 Deletion Syndrome

22q11.2 Deletion Syndrome is a genetic disorder linked to a wide-range of health issues that is found in children where a small piece of chromosome 22 is missing.
http://www.nationwidechildrens.org/22q11-deletion-syndrome
What is 22q? - Dempster Family Foundation

22q is a disorder caused by a small missing piece of the 22nd chromosome.
http://dempsterfamilyfoundation.org/what-22q/22q-overview
Home - 22q.org

An easy way to share information about 22q with others!
http://www.22q.org
22q11.2 Deletion Syndrome - Genetics Home Reference

22q11.2 deletion syndrome (which is also known by several other names, listed below) is a disorder caused by the deletion of a small piece of chromosome 22.
http://ghr.nlm.nih.gov/condition/22q112-deletion-syndrome

Comments

DiGeorge syndrome
Other names	DiGeorge anomaly,^[1]^[2] velocardiofacial syndrome (VCFS),^[3] Shprintzen syndrome,^[4] conotruncal anomaly face syndrome (CTAF),^[5] Takao syndrome,^[6] Sedlackova syndrome,^[7] Cayler cardiofacial syndrome,^[7] CATCH22,^[7] 22q11.2 deletion syndrome^[7]

A child with characteristic facial features of DiGeorge syndrome
Specialty	Medical genetics
Symptoms	Varied; commonly congenital heart problems, specific facial features, cleft palate^[7]
Complications	Kidney problems, hearing loss, autoimmune disorders^[7]
Causes	Genetic (typically new mutation)^[7]
Diagnostic method	Based on symptoms and genetic testing^[5]
Differential diagnosis	Smith–Lemli–Opitz syndrome, Alagille syndrome, VACTERL, Oculo-auriculo-vertebral spectrum^[5]
Treatment	Involves many healthcare specialties^[5]
Prognosis	Depends on the specific symptoms^[3]
Frequency	1 in 4,000^[7]

Source : Wikipedia under CC-BY-SA license

Links
Media

22q11.2 Deletion Syndrome - Patient Info

In 1965 DiGeorge described a patient with hypoparathyroidism and cellular immune deficiency secondary to thymic hypoplasia. Soon the pattern of malformation included in this syndrome expanded to include other defects of third and fourth branchial arches as well as dysmorphic facial features.
http://patient.info/doctor/22q112-deletion-syndrome
What Is Chromosome 22q11.2 Deletion Syndrome, and Why Do You Need to Know? - Medscape

The chromosome 22q11.2 deletion is the most common microdeletion syndrome, which is actually quite perplexing because it's a condition that most clinicians have not heard about, partially due to the fact that it has had multiple names over the years.
http://www.medscape.com/viewarticle/866043
22q11.2 Deletion Syndrome - NIH

22q11.2 deletion syndrome (which is also known by several other names, listed below) is a disorder caused by the deletion of a small piece of chromosome 22. The deletion occurs near the middle of the chromosome at a location designated q11.2.
https://ghr.nlm.nih.gov/condition/22q112-deletion-syndrome
22q11.2 Deletion Syndrome - Stanford Children

22q11.2 deletion syndrome is a genetic disorder. In this syndrome, a tiny piece of chromosome 22 is missing. This can cause many medical problems. These problems may range from heart defects and developmental delays to seizures and effects on facial appearance. These might include cleft palate (an opening in the roof of the mouth).
http://www.stanfordchildrens.org/en/topic/default?id=22q112-deletion-syndrome-90-P01682
The 22q11 Deletion Syndromes

DiGeorge syndrome, velocardiofacial syndrome and various other malformations have been described in association with deletions and translocations involving human chromosome 22q11.
http://hmg.oxfordjournals.org/content/9/16/2421.full
22q Fact Sheets

22q Deletion Syndrome (22q DS), which is also known as DiGeorge syndrome and Velo-Cardio-Facial syndrome, can affect many different parts of the body.
http://www.sickkids.ca/CGenetics/What-we-do/22q-deletion-syndrome-clinic/Meet-the-22q-team/index.html
DiGeorge Syndrome - Mayo Clinic

DiGeorge syndrome (22q11.2 deletion syndrome) - Comprehensive overview covers causes, symptoms and treatment of this chromosomal disorder.
http://www.mayoclinic.org/diseases-conditions/digeorge-syndrome/basics/definition/con-20031464
What is 22q11.2 Deletion Syndrome?

22q11.2 deletion syndrome is a genetic disorder. In this syndrome, a tiny piece of chromosome 22 is missing. This can cause many medical problems.
https://www.urmc.rochester.edu/Encyclopedia/Content.aspx?ContentTypeID=90
Chromosome 22q11.2 Deletion Syndrome - NORD (National Organization for Rare Disorders)

Chromosome 22q11.2 deletion syndrome is associated with a range of problems including: congenital heart disease, palate abnormalities, immune system dysfunction including autoimmune disease, low calcium (hypocalcemia) and other endocrine abnormalities.
https://rarediseases.org/rare-diseases/chromosome-22q11-2-deletion-syndrome/
DiGeorge Syndrome - Wikipedia, the Free Encyclopedia

22q11.2DS is the most common microdeletion syndrome characterized by low copy repeats and the deletion occurs near the middle of the chromosome at a location designated 22q11.2 - signifying its location on the long arm of one of the pair of chromosomes 22, on region 1, band 1, sub-band 2.
https://en.wikipedia.org/wiki/DiGeorge_syndrome
About 22q11.2 Deletion Syndrome

22q11.2 Deletion Syndrome is a genetic disorder linked to a wide-range of health issues that is found in children where a small piece of chromosome 22 is missing.
http://www.nationwidechildrens.org/22q11-deletion-syndrome
What is 22q? - Dempster Family Foundation

22q is a disorder caused by a small missing piece of the 22nd chromosome.
http://dempsterfamilyfoundation.org/what-22q/22q-overview
Home - 22q.org

An easy way to share information about 22q with others!
http://www.22q.org
22q11.2 Deletion Syndrome - Genetics Home Reference

22q11.2 deletion syndrome (which is also known by several other names, listed below) is a disorder caused by the deletion of a small piece of chromosome 22.
http://ghr.nlm.nih.gov/condition/22q112-deletion-syndrome

DiGeorge syndrome
Other names	DiGeorge anomaly,^[1]^[2] velocardiofacial syndrome (VCFS),^[3] Shprintzen syndrome,^[4] conotruncal anomaly face syndrome (CTAF),^[5] Takao syndrome,^[6] Sedlackova syndrome,^[7] Cayler cardiofacial syndrome,^[7] CATCH22,^[7] 22q11.2 deletion syndrome^[7]

A child with characteristic facial features of DiGeorge syndrome
Specialty	Medical genetics
Symptoms	Varied; commonly congenital heart problems, specific facial features, cleft palate^[7]
Complications	Kidney problems, hearing loss, autoimmune disorders^[7]
Causes	Genetic (typically new mutation)^[7]
Diagnostic method	Based on symptoms and genetic testing^[5]
Differential diagnosis	Smith–Lemli–Opitz syndrome, Alagille syndrome, VACTERL, Oculo-auriculo-vertebral spectrum^[5]
Treatment	Involves many healthcare specialties^[5]
Prognosis	Depends on the specific symptoms^[3]
Frequency	1 in 4,000^[7]

Source : Wikipedia under CC-BY-SA license

Enter username for account

Enter username for account

Not a member of NMPED Community!

22q11.2 Deletion Syndrome

Causes, symptoms, diagnostic procedures and criteria, treatments and prognoses for 22q11.2 Deletion Syndrome, also known as DiGeorge syndrome or DiGeorge anomoly, a genetic disorder that affects a number of major body systems.

Logged Out