Summary about Disease
Chromosome 13q deletion syndrome refers to a group of rare genetic disorders caused by a missing (deleted) piece of genetic material on the long (q) arm of chromosome 13. The severity and specific symptoms vary widely depending on the size and location of the deletion. Individuals with this syndrome may experience developmental delays, intellectual disability, characteristic facial features, skeletal abnormalities, and organ system defects.
Symptoms
Symptoms vary greatly depending on the size and location of the deletion. Common symptoms include:
Developmental delays (speech, motor skills)
Intellectual disability
Characteristic facial features (e.g., prominent forehead, widely spaced eyes, small jaw)
Skeletal abnormalities (e.g., rib cage or vertebrae abnormalities, clubfoot)
Eye abnormalities (e.g., microphthalmia, coloboma, cataracts, retinal detachment)
Heart defects
Kidney abnormalities
Growth deficiency
Feeding difficulties
Hypotonia (low muscle tone)
Hearing loss
Seizures
Behavioral problems
Causes
Chromosome 13q deletion syndrome is caused by a deletion of genetic material on the long arm (q) of chromosome 13. This deletion can occur spontaneously (de novo) during the formation of reproductive cells (eggs or sperm) or early in embryonic development. In some cases, the deletion is inherited from a parent who carries a balanced translocation or inversion involving chromosome 13.
Medicine Used
There is no specific medication to cure chromosome 13q deletion syndrome. Treatment focuses on managing the symptoms and associated health problems. Medications may be used to address:
Seizures (antiepileptic drugs)
Heart conditions (cardiac medications)
Kidney problems (medications to support kidney function)
Behavioral problems (medications to manage specific behaviors)
Other conditions as they arise. In addition to medicine the followiing are utilized: Physical Therapy Occupational Therapy *Speech Therapy *Educational support
Is Communicable
Chromosome 13q deletion syndrome is NOT communicable. It is a genetic disorder caused by a change in the individual's chromosomes and cannot be passed from person to person through infection.
Precautions
Because chromosome 13q deletion is a genetic condition, there are no specific precautions that can prevent its occurrence. Genetic counseling may be helpful for individuals with chromosome 13q deletion syndrome or their families, particularly if there is a family history of chromosome abnormalities.
How long does an outbreak last?
Chromosome 13q deletion syndrome is not an infectious disease, so the concept of an "outbreak" does not apply. It is a lifelong condition.
How is it diagnosed?
Diagnosis typically involves:
Clinical Evaluation: Assessment of physical features, developmental milestones, and medical history.
Chromosomal Analysis (Karyotype): A blood test to examine the chromosomes and identify any deletions or other abnormalities.
Fluorescence In Situ Hybridization (FISH): A more specific test that uses fluorescent probes to detect deletions in specific regions of the chromosome.
Chromosomal Microarray Analysis (CMA): A high-resolution test that can detect small deletions and duplications that may not be visible on a standard karyotype.
Other tests: May be used to evaluate specific health problems (e.g., echocardiogram for heart defects, renal ultrasound for kidney abnormalities)
Timeline of Symptoms
The timeline of symptom onset and progression varies greatly depending on the individual and the specific deletion. Some symptoms, such as characteristic facial features or congenital heart defects, may be present at birth. Developmental delays may become apparent in infancy or early childhood. Other problems, such as seizures or behavioral issues, may develop later in life.
Important Considerations
Individual Variability: The severity and specific symptoms of chromosome 13q deletion syndrome vary widely.
Multidisciplinary Care: Management requires a team of specialists, including geneticists, pediatricians, cardiologists, neurologists, therapists, and educators.
Early Intervention: Early intervention programs, such as physical therapy, occupational therapy, and speech therapy, can help to maximize developmental potential.
Family Support: Support groups and advocacy organizations can provide valuable resources and emotional support for families affected by chromosome 13q deletion syndrome.
Genetic Counseling: Genetic counseling is recommended for families to understand the recurrence risk and discuss reproductive options.