chromosome 15q24 deletion syndrome

Chromosome 15q24 Deletion Syndrome: A Rare Genetic Condition

Chromosome 15q24 deletion syndrome is a rare and novel microdeletion syndrome characterized by pre- and post-natal growth retardation, intellectual disability, and unique facial features [5]. This condition occurs when a small amount of material is missing from the 15th chromosome, which can affect learning and physical development [6].

Common Signs and Symptoms

People with chromosome 15q24 deletion syndrome often experience slow or delayed growth before and after birth. They may also have intellectual disability and unique facial features [4]. Growth delay, feeding difficulties, and distinct facial features are often the presenting early symptoms of this condition [3].

Characteristics

This rare chromosomal anomaly is characterized by a 1.7-6.1 Mb deletion in chromosome 15q24 [8]. The syndrome can cause mild to moderate intellectual disability and delayed speech development [9]. Individuals with chromosome 15q24 deletion syndrome may also experience pre- and post-natal growth retardation, unusual facial morphology, and intellectual disability [7].

In Summary

Chromosome 15q24 deletion syndrome is a rare genetic condition that affects learning and physical development. It is characterized by slow or delayed growth before and after birth, intellectual disability, unique facial features, and pre- and post-natal growth retardation.

References: [3] PL Magoulas · 2012 · Cited by 48 [4] [5] PL Magoulas · 2012 · Cited by 48 [6] [7] HC Mefford · 2012 · Cited by 62 [8] [9] Sep 1, 2011

Chromosome 15q24 Deletion Syndrome: Signs and Symptoms

Individuals with chromosome 15q24 deletion syndrome may exhibit a range of signs and symptoms, which can vary in severity and impact. Some common features include:

• Growth Retardation: People with this condition often experience growth delays, leading to short stature.
• Intellectual Disability: Chromosome 15q24 deletion syndrome is associated with mild to moderate intellectual disability, affecting cognitive development and learning abilities.
• Distinct Facial Features: Individuals may have a long face with a high anterior hairline, hypertelorism (increased distance between the eyes), and other distinctive facial characteristics.
• Developmental Delay: Children with this condition may experience delays in reaching developmental milestones, such as sitting, walking, or talking.
• Low Muscle Tone (Hypotonia): Infants and young children may have low muscle tone, leading to floppiness or weakness in their muscles.
• Skeletal Abnormalities: Some individuals may have loose joints, skeletal abnormalities, or other musculoskeletal issues.
• Genital Anomalies: Boys with chromosome 15q24 deletion syndrome may experience hypospadias (a condition where the urethra opens on the underside of the penis).
• Behavioral Issues: Developmental delay and intellectual disability can lead to behavioral challenges, such as difficulty with social interactions or emotional regulation.

These signs and symptoms can vary in severity and impact from person to person. Early diagnosis and intervention through genetic testing and supportive care can help individuals with chromosome 15q24 deletion syndrome manage their condition and improve their quality of life.

References:

• [2] Chromosome 15q24 microdeletion syndrome is a recently described rare microdeletion syndrome that has been reported in 19 individuals. It is characterized by growth retardation, intellectual disability, and distinct facial features including long face with high anterior hairline, hypertelorism, ...
• [4] October 24, 2023 - People with 15q24 microdeletion ... development. The most common findings in 15q24 microdeletion syndrome include developmental delay

Diagnostic Tests for Chromosome 15q24 Deletion Syndrome

Chromosome 15q24 deletion syndrome, a rare chromosomal anomaly, requires specific diagnostic tests to confirm the condition. Here are some of the key tests used:

• Blood test: A blood test is needed to check both parents' chromosomes and determine why the 15q24 microdeletion occurred [3][9]. This test can help identify the genetic cause of the syndrome.
• Chromosomal microarray: Chromosomal microarray, a first-tier clinical diagnostic test, should be used to detect the deletion in chromosome 15q24 [7].
• Prenatal ultrasonography: Prenatal ultrasonography may detect some cardiovascular malformations, diaphragmatic hernias, and growth retardation in the fetus with 15q24 microdeletion syndrome [2].

Additional Tests

In addition to these tests, other assessments are also necessary:

• Baseline echocardiograms: Individuals should receive baseline echocardiograms to assess heart function.
• Audiologic assessment: Audiologic assessment is needed to evaluate hearing.
• Ophthalmologic assessment: Ophthalmologic assessment is required to examine the eyes and detect any abnormalities.
• Developmental assessments: Developmental assessments are necessary to evaluate cognitive and motor skills.

These diagnostic tests can help confirm chromosome 15q24 deletion syndrome and provide a comprehensive understanding of the condition.

Treatment Options for Chromosome 15q24 Deletion Syndrome

While there is no specific treatment for chromosome 15q24 deletion syndrome, a multidisciplinary approach that involves various medical specialists can help manage the symptoms and improve the quality of life for individuals with this condition.

• Genetic counseling: Genetic counseling is essential to understand the genetic basis of the condition and to provide guidance on reproductive options.
• Developmental pediatrics: Developmental pediatricians can help address developmental delays, growth retardation, and other related issues.
• Neurology: Neurologists may be involved in managing seizures, muscle tone abnormalities, and other neurological symptoms.
• Psychology: Psychologists or psychiatrists can provide support for individuals with intellectual disability and behavioral challenges.
• Speech therapy: Speech therapists can help improve communication skills.
• Occupational therapy: Occupational therapists can assist with daily living skills and adaptive techniques.

Medications

While there are no specific medications approved for chromosome 15q24 deletion syndrome, various medications may be used to manage related symptoms. These include:

• Anticonvulsants: To control seizures
• Muscle relaxants: To manage muscle tone abnormalities
• Stimulants: To improve attention and focus in individuals with intellectual disability
• Behavioral medications: To address

Chromosome 15q24 deletion syndrome, also known as Witteveen-Kolk syndrome, can be challenging to diagnose due to its rarity and overlapping symptoms with other genetic syndromes. To establish a differential diagnosis, it's essential to consider the following conditions:

• Velo-cardio-facial syndrome (22q11.2 deletion syndrome): This condition shares similar features with 15q24 deletion syndrome, including intellectual disability, delayed speech development, and distinct facial features [3][9].
• Prader-Willi syndrome: Although not directly related to chromosome 15, Prader-Willi syndrome can present with similar symptoms like growth retardation, delayed speech, and intellectual disability [1].
• Angelman syndrome: This genetic disorder also presents with developmental delays, intellectual disability, and unique facial features, which may