DiGeorge
Syndrome
DiGeorge Syndrome:
Past, Present, and Future
Name: DiGeorge Syndrome
(DGS)
Alternate Names: 22q11.2
Deletion Syndrome,
Velocardiofacial Syndrome
Disorder
Origin of Name: Named after
Dr. Angelo DiGeorge, who first
described the disorder.
Discovery: Identified in the
1960s by Dr. DiGeorge.
Type of Genetic Disorder
Chromosomal Deletion Disorder
Deletion of a small segment on
chromosome 22.
Mostly not inherited; occurs as a
random mutation. In rare cases,
autosomal dominant inheritance.
Chromosome/Genetics
Information
Chromosomal Location: 22q11.2 (long arm of chromosome
22)
Multi-gene disorder due to deletion impacting multiple genes.
X or Y Linked: Not sex-linked.
Mutation Type: Chromosomal deletion.
Dominance: Autosomal dominant in inherited cases.
Symptoms of Disorder
Immune
Heart defects system Cleft palate
deficiencies
Delayed
Learning
growth and
disabilities
development
Physical abnormalities
such as a cleft palate
Effects of Developmental delays
and intellectual
Disorder challenges
Increased
susceptibility to
infections due to
immune dysfunction
Diagnosis
is based
on:
Diagnosis
• Clinical features observed by doctors
• Genetic testing such as FISH (fluorescence in
situ __hybridization) to detect deletion.
Life Expectancy: Variable, depending
on severity of heart and immune
defects.
Impacts: Physical and developmental
challenges, requiring lifelong
management.
Prognosis Family Impact: Emotional and financial
stress on caregivers.
Treatments/Medications
Surgery for heart
defects and cleft
palate
Current Treatments:
Immune system
support with regular
monitoring
Past Treatments: Gene Therapy:
Supportive care before Currently not available,
advanced genetic but a topic of ongoing
understanding. research.
Current Research
Research • 22q and You Center at Children’s
Hospital of Philadelphia
Facilities:
• Understanding genetic mechanisms,
Focus: improving treatments, and exploring
gene therapy options.
In July 2024, a case report titled "DiGeorge Syndrome
Diagnosed at Age 38: Challenges in Low-resource
Settings and Implications of a Missed Diagnosis" was
published in JCEM Case Reports by William Kuenstner,
Suthee Rapisuwon, and Leila Shobab. The report details
the journey of a 38-year-old individual who was
diagnosed with DiGeorge Syndrome later in life,
highlighting the challenges faced in low-resource
settings and the consequences of delayed diagnosis.
The patient experienced various health issues
throughout their life, including congenital heart defects,
Personal
immune deficiencies, and developmental delays.
However, due to limited access to specialized
healthcare and diagnostic tools, these symptoms were
not recognized as part of DiGeorge Syndrome until
Story adulthood. The late diagnosis had significant
implications for the patient's health management and
quality of life.
This case underscores the importance of early detection
and intervention for genetic disorders like DiGeorge
Syndrome. It also highlights the need for improved
healthcare resources and awareness in underserved
areas to prevent such delayed diagnoses in the future.
For more detailed information, you can access the full
case report here.
Resources
Lackey AE, Muzio MR. DiGeorge Syndrome. [Updated 2023 Aug 8]. In:
StatPearls [Internet]. Treasure Island (FL): StatPearls Publishing; 2024
Jan-. Available from: https://www.ncbi.nlm.nih.gov/books/NBK549798/
McDonald-McGinn, Donna M. MS, CGC; Sullivan, Kathleen E. MD, PhD.
Chromosome 22q11.2 Deletion Syndrome (DiGeorge
Syndrome/Velocardiofacial Syndrome). Medicine 90(1):p 1-18, January 2011.
| DOI: 10.1097/MD.0b013e3182060469
William Kuenstner, Suthee Rapisuwon, Leila Shobab, DiGeorge Syndrome
Diagnosed at Age 38: Challenges in Low-resource Settings and Implications
of a Missed Diagnosis, JCEM Case Reports, Volume 2, Issue 7, July 2024,
luae136, https://doi.org/10.1210/jcemcr/luae136
McDonald-McGinn, Donna M., editor. The Chromosome 22q11.2 Deletion
Syndrome : A Multidisciplinary Approach to Diagnosis and Treatment.
Academic Press, 2022.
