selfexplanatory.

2022
Saba Parvin Haque
MSc in Neuroscience
from “Sophia College For
Women”, Mumbai.
DIGEORGE
SYNDROME
(DGS)
 DIGEORGE SYNDROME
WHAT IS ANOTHER NAME
FOR DIGEORGE?
 Velocardiofacial syndrome (VCFS)
 Conotruncal anomaly face syndrome (CTAF)

 Shprintzen syndrome
Fig: Angelo DiGeorge
 Sedlackova syndrome. He was an Italian American physician and
pediatric endocrinologist who contributed to the
 CATCH 22 syndrome. research on the autosomal dominant
immunodeficiency now commonly referred to as

 22q11.2 deletion syndrome

DiGeorge syndrome.

https://images.app.goo.gl/1suTqEzXo7vv62JH7
 WHAT IS DI GEORGE
SYNDROME?
https://images.app.goo.gl/VRmtoriAEx9yrYU67

 DiGeorge syndrome is a chromosomal

disorder that typically affects the 22nd
chromosome.
 Several body systems develop poorly,
and there may be medical problems,
ranging from a heart defect to behavioral
problems and a cleft palate.
 The disorder has an autosomal
dominant inheritance pattern.
WHAT CAUSES DIGEORGE SYNDROME?
o About 90% of DGS cases are a result of a deletion in
chromosome 22, more specifically on the long arm
(q) at the 11.2 locus (22q11.2).
o Most of these mutations arise de novo with no genetic
abnormalities noted in the genome of the parents of
children with DGS.
o Researchers have identified over 90 different genes at
this locus, some of which they have studied in mouse
models.
o The most studied of these genes is T-box
transcription factor 1 (TBX1), which correlates with
severe defects in the development of the heart, thymus,
and parathyroid glands of mouse models.
o TBX1 also correlates with neuromicrovascular
anomalies, which may be responsible for the
behavioral and developmental abnormalities seen in Fig: Schematic diagram depicting the
DGS deletion and some of the genes in this region
https://upload.wikimedia.org/wikipedia/commons/9/9e/22_del_q11.2.png
 SYMPTOMS
 Congenital Heart Problem (Heart murmur
and bluish skin)
 Frequent infections
 Specific facial features
 Cleft palate
 Delayed growth
 Difficulty feeding
 Failure to gain weight
 Gastrointestinal problems
 Breathing problem
 Poor muscle tone
 Delayed development
 Delayed Speech development or nasal
sounding speech Fig: A child with DiGeorge syndrome showing
characteristic dysplasia of ears and mouth and
 Learning delay or disabilities
abnormally wide distance between the eyes.
 Behavior problems
https://images.app.goo.gl/K9zJYFCxuhZt2eRLA
 SYMPTOMS

https://noonansyndrome.com.au/wp-content/uploads/2016/12/Facial_Features.jpg https://images.app.goo.gl/pntLm21Z4XB6iG1R7
 DIAGNOSIS
Fluorescent In Situ Hybridization (FISH)

DiGeorge syndrome is
most commonly
diagnosed with a
blood test called a
FISH analysis.

https://youtu.be/b81DcJC1jAs
 TREATMENT
 Thymus transplantation can be used to address absence of the thymus
in the rare.
 Bacterial infections are treated with antibiotics.

 Cardiac surgery is often required for congenital heart abnormalities

 Hypoparathyroidism causing hypocalcaemia often requires lifelong

Vitamin D and calcium Supplements.
 Cleft palate by surgical repair.

 Immunization with live vaccines

Although there is no cure for DiGeorge syndrome (22q11. 2 deletion syndrome), treatments
can usually correct critical problems, such as a heart defect or cleft palate.
 REFERENCES
 NHS website. (2021, November 18). DiGeorge syndrome (22q11 deletion). nhs.uk.
https://www.nhs.uk/conditions/digeorge-syndrome/
 NCBI - https://www.ncbi.nlm.nih.gov/books/NBK549798/
 Kindt, T. J., Osborne, B. A., & Goldsby, R. A. (2006, August 15). Kuby Immunology,
Sixth Edition (6th ed.). W. H. Freeman & Company.
 Bawle, E. V., MD. (2021, October 14). DiGeorge Syndrome: Practice Essentials,
Background, Pathophysiology. https://emedicine.medscape.com/article/886526-overview
 22q11.2 deletion syndrome: MedlinePlus Genetics. (n.d.).
https://medlineplus.gov/genetics/condition/22q112-deletion-syndrome/
 DiGeorge Syndrome - Developmental and Behavioral Pediatrics - Golisano Children’s
Hospital - University of Rochester Medical Center. (n.d.).
https://www.urmc.rochester.edu/childrens-hospital/developmental-
disabilities/conditions/digeorge-syndrome.aspx