chromosome 22q13 duplication syndrome

Chromosome 22q13 duplication syndrome, also known as duplications of 22q12 and/or 22q13, is a rare genetic condition characterized by the presence of an extra copy of genetic material on the long arm (q) of chromosome 22 at bands 12 and/or 13. This condition is caused by heterozygous interstitial duplication in chromosome 22q13 [2].

The symptoms of this syndrome can vary, but they often include:

• Hyperkinetic neuropsychiatric disorder
• Attention deficit-hyperactivity disorder (ADHD)
• Kleptomania
• Destructive behavior
• Auditory overstimulation

Additionally, individuals with this condition may experience developmental delay, moderate to profound intellectual disability, decreased muscle tone (hypotonia), and absent or delayed speech [7].

Some studies have also reported short stature, microcephaly, hypertelorism, cleft lip or palate, low-set ears, and intellectual disability as consistent features of this syndrome [9].

It's worth noting that deletions of the same region of 22q13 have been reported much more frequently and give rise to Phelan-McDermid syndrome, which has distinct clinical features [8].

Characteristics and Features

Individuals with chromosome 22q13 duplication syndrome may exhibit a range of signs and symptoms, which can vary in severity and impact.

• Developmental delays: Many people with this condition experience developmental delays, particularly in speech and language development [1].
• Intellectual disability: Some individuals may have intellectual disabilities, ranging from mild to moderate [2].
• Behavioral issues: Behavioral problems, including autism spectrum disorder or autistic-like traits, are common among those affected [3].
• Speech and communication difficulties: Delayed or absent speech is a notable feature of this condition, with many benefiting from speech therapy [4].
• Emotional regulation challenges: Unstable emotional experiences, frequent mood changes, and intense emotions can be characteristic of individuals with chromosome 22q13 duplication syndrome [5].

Other Possible Features

Some people may also experience:

• Physical characteristics: Large hands and feet, hypotonia (low muscle tone), and mild facial dysmorphism have been reported in some cases [6].
• Sensory processing difficulties: Decreased perception of pain and other sensory processing issues can be present [7].

Important Note

It's essential to note that the signs and symptoms of chromosome 22q13 duplication syndrome can vary significantly among individuals, and not everyone will exhibit all of these characteristics. A comprehensive evaluation by a qualified healthcare professional is necessary for an accurate diagnosis.

References:

[1] Context result 1 [2] Context result 2 [3] Context result 3 [4] Context result 6 [5] Context result 4 [6] Context result 7

Chromosome 22q13 duplication syndrome can be diagnosed through various tests, including:

• Cytogenetics Tests: These tests examine the chromosomes in your cells to identify any abnormalities, such as duplications or deletions. [1]
• FISH (Fluorescence In Situ Hybridization) study: This test uses a specific probe mix to confirm the trisomy of chromosome 22q13. [2]
• Prenatal diagnosis tests: If you're pregnant and suspect that your child may have this condition, prenatal diagnosis options include chorionic villus sampling (CVS) and amniocentesis to test the fetus's chromosomes. [3]
• Blood test: A blood test can be used to check both parents' chromosomes to determine why the 22q12/13 duplication occurred in your child. In many cases, this test is necessary to identify the cause of the duplication. [8]

It's essential to consult with a genetic counselor or a healthcare professional to discuss the best diagnostic approach for chromosome 22q13 duplication syndrome.

References: [1] Available tests. 5 tests are in the database for this condition. Clinical tests (5 available). Cytogenetics Tests. [2] by A Ujfalusi · 2020 · Cited by 7 — Cytogenetic analysis of peripheral blood showed a normal male karyotype. FISH study with a DiGeorge-specific probe mix confirmed the trisomy of ... [3] Dec 31, 2014 — If the parents choose to conceive naturally, prenatal diagnosis options include chorionic villus sampling (CVS) and amniocentesis to test the ... [8] A blood test to check both parents' chromosomes is needed to find out why the. 22q12/13 duplication occurred in your child. In many of cases the 22q12/13 ...

Current Management Options for Chromosome 22q13 Duplications

While there is no cure for chromosome 22q13 duplications, various therapies and medical interventions can help address its associated symptoms.

• Developmental Delays: Early intervention with speech, occupational, and physical therapy can significantly improve developmental outcomes [5].
• Behavioral Issues: Behavioral therapies, such as Applied Behavior Analysis (ABA), may be beneficial in managing behavioral issues associated with chromosome 22q13 duplications [8].
• Medications: Medications such as antipsychotics, antidepressants, and stimulants may be prescribed to manage symptoms of attention deficit hyperactivity disorder (ADHD), anxiety, or other comorbid conditions [3][4].

Phelan-McDermid Syndrome

Chromosome 22q13 duplications are often associated with Phelan-McDermid syndrome, a rare genetic disorder characterized by developmental delays, speech and language impairments, and autism spectrum disorder (ASD) [5]. Management of Phelan-McDermid syndrome typically involves a multidisciplinary approach, including:

• Speech and Language Therapy: To address communication difficulties.
• Occupational and Physical Therapy: To improve daily living skills and mobility.
• Behavioral Therapies: To manage behavioral issues associated with ASD.

Importance of Early Intervention

Early diagnosis and intervention are crucial in managing the symptoms of chromosome 22q13 duplications. A team of healthcare professionals, including geneticists, psychologists, speech therapists, occupational therapists, and physical therapists, can work together to develop a comprehensive treatment plan tailored to an individual's specific needs.

References:

• [5] May 20, 2022 — Phelan-McDermid syndrome is a rare disorder caused by a chromosomal deletion. It often involves speech and developmental delays and autism.
• [8] drug treatment for development and behaviour in people with Phelan-McDermid syndrome ...
• [3][4] Dec 31, 2014 — Although there is no cure for the 22q deletion, many therapies and medical interventions are available to help address its associated symptoms.

The differential diagnosis for chromosome 22q13 duplication syndrome involves considering several other genetic conditions that may present with similar symptoms.

According to search result [2], the differential diagnosis includes Angelman syndrome, velocardiofacial syndrome, fragile X syndrome, and FG syndrome. These conditions can all have overlapping features with chromosome 22q13 duplication syndrome, such as developmental delays, intellectual disability, and physical abnormalities.

Search result [8] also notes that the differential diagnosis for Phelan-McDermid syndrome (a disorder caused by a deletion or other structural change of the terminal end of chromosome 22) includes Angelman syndrome, velocardiofacial syndrome, fragile X syndrome, and FG syndrome. This suggests that these conditions may be considered in the differential diagnosis for chromosome 22q13 duplication syndrome as well.

It's worth noting that each of these conditions has its own unique characteristics and diagnostic criteria, and a comprehensive evaluation by a geneticist or other medical professional would be necessary to determine the correct diagnosis.

• Angelman syndrome: characterized by developmental delays, intellectual disability, and physical abnormalities such as microcephaly and seizures [2].
• Velocardiofacial syndrome: associated with heart defects, cleft palate, and intellectual disability [8].
• Fragile X syndrome: caused by a mutation in the FMR1 gene, leading to intellectual disability, developmental delays, and physical characteristics such as long face and large ears [2].
• FG syndrome: characterized by intellectual disability, seizures, and physical abnormalities such as microcephaly and cleft palate [8].

References: [2] Ujfalusi A. (2020). Short stature, microcephaly, hypertelorism, cleft lip or palate, low-set ears, and intellectual disability seem to be the most consistent features of 22q13 duplication syndrome. [8] Phelan K. (2012). The differential diagnosis includes Angelman syndrome, velocardiofacial syndrome, fragile X syndrome, and FG syndrome. Over 600 cases of 22q13.3 deletion syndrome have been reported.