DiGeorge syndrome || 22q11. 2 deletion syndrome || Immunodeficiency

Name: DiGeorge syndrome || 22q11. 2 deletion syndrome || Immunodeficiency
Uploaded: 2020-11-22T16:55:43.000Z
Duration: 10 min 21 s
Description: DiGeorge syndrome, also known as 22q11. 2 deletion syndrome, is a syndrome caused by the deletion of a small segment of chromosome 22. While the symptoms can vary, they often include congenital heart problems, specific facial features, frequent infections, developmental delay, learning problems and cleft palate.

Understanding DiGeorge Syndrome

Overview of DiGeorge Syndrome

DiGeorge syndrome, also known as 22q 11.2 deletion syndrome, is caused by the deletion of a small segment of chromosome 22.

It is characterized as an inherited immunodeficiency disorder, primarily due to poorly developed or absent thymus glands leading to T-cell production defects.

Distinct Facial Features

Patients with DiGeorge syndrome often exhibit distinct facial features: low-set ears, short eye openings, enlarged nose tips, hooded eyes, and elongated faces.

Genetic Implications

The deletion at locus 22q11.2 affects over 20 genes; notably the TBX1 gene which plays a crucial role in developing various structures including the heart and thymus.

The absence of the TBX1 gene leads to significant developmental issues in critical organs such as the heart (e.g., ventricular septal defects).

Associated Complications

Other complications include thyroid and parathyroid gland issues and physical anomalies like cleft palates that can cause swallowing difficulties and speech problems.

Immunological Challenges

Most patients experience variable degrees of immunodeficiency due to absent or underdeveloped thymus glands affecting T-cell mediated immunity.

Thymic transplantation and passive antibody treatments may provide temporary relief but are not long-term solutions for compromised immune systems.

Summary Insights

Video description

DiGeorge syndrome, also known as 22q11. 2 deletion syndrome, is a syndrome caused by the deletion of a small segment of chromosome 22. While the symptoms can vary, they often include congenital heart problems, specific facial features, frequent infections, developmental delay, learning problems and cleft palate.