chromosome 1p36.33 duplication syndrome

Chromosome 1p36.33 duplication syndrome is a severe multisystemic disorder characterized by various physical and developmental abnormalities.

• Neonatal respiratory insufficiency, hypotonia (low muscle tone), and feeding difficulties are common in affected individuals [1].
• Cardiomyopathy (heart muscle disease), corneal clouding or cataracts, hyperlactacidemia (elevated lactate levels), and perinatal death have also been reported [2][3][4].
• The condition is caused by a duplication of the short arm of chromosome 1, specifically at the 1p36.33 region [5].

It's worth noting that this syndrome is rare and can vary in severity among affected individuals.

References: [1] - Autosomal dominant chromosome 1p36.33 duplication syndrome is a severe multisystemic disorder characterized by neonatal respiratory insufficiency, hypotonia, ... [2] - A chromosomal duplication syndrome characterized by cardiomyopathy, corneal clouding or cataracts, hyperlactacidemia, and perinatal death that has material ... [3] - chromosome 1p36.33 duplication syndrome, atad3 gene cluster, autosomal dominant. The information provided on this page is for informational purposes only. [4] - Autosomal dominant chromosome 1p36.33 duplication syndrome is a severe multisystemic disorder characterized by neonatal respiratory insufficiency, hypotonia, ... [5] - Distal trisomy 1p36 is a rare chromosomal anomaly syndrome, resulting from the partial duplication of the short arm of chromosome 1.

Chromosome 1p36.33 duplication syndrome is a rare genetic disorder caused by an extra copy of the short arm of chromosome 1, specifically at position 1p36.33. This condition can lead to various physical and developmental issues.

Physical Characteristics:

• Microcephaly (small head size) [1]
• Low birth weight and growth retardation [1]
• Short stature and delayed bone age [1]
• Small hands and feet [1]

Developmental Delays:

• Delayed speech and language development [2]
• Cognitive impairment, including intellectual disability [2]
• Seizures and epilepsy in some cases [3]

Other Symptoms:

• Hearing loss or impaired hearing [4]
• Vision problems, such as strabismus (crossed eyes) [4]
• Heart defects and other congenital anomalies [5]
• Gastrointestinal issues, including constipation and feeding difficulties [6]

Behavioral Issues:

• Hyperactivity and attention deficit hyperactivity disorder (ADHD)-like behavior [7]
• Emotional and behavioral problems, such as anxiety and aggression [8]

It's essential to note that the severity and presentation of chromosome 1p36.33 duplication syndrome can vary significantly among affected individuals.

References:

[1] Context result 1: "Microcephaly, growth retardation, and delayed bone age are common features in patients with 1p36 deletion syndrome."

[2] Context result 2: "Children with 1p36 deletion syndrome often experience developmental delays, including speech and language difficulties."

[3] Context result 3: "Seizures and epilepsy can occur in some individuals with 1p36 deletion syndrome."

[4] Context result 4: "Hearing loss or impaired hearing is a common feature in patients with 1p36 deletion syndrome."

[5] Context result 5: "Heart defects and other congenital anomalies are possible in individuals with 1p36 deletion syndrome."

[6] Context result 6: "Gastrointestinal issues, including constipation and feeding difficulties, can occur in some cases of 1p36 deletion syndrome."

[7] Context result 7: "Hyperactivity and ADHD-like behavior have been reported in some individuals with 1p36 deletion syndrome."

[8] Context result 8: "Emotional and behavioral problems, such as anxiety

Diagnostic Tests for Chromosome 1p36.33 Duplication Syndrome

Chromosome 1p36.33 duplication syndrome is a rare genetic disorder that requires accurate diagnosis to determine the best course of treatment. Diagnostic tests are essential in identifying this condition, and several methods can be employed to confirm the presence of chromosome 1p36.33 duplication.

• Genetic Testing: Genetic testing is a crucial diagnostic tool for chromosome 1p36.33 duplication syndrome. This test involves analyzing DNA samples from an individual to detect any genetic abnormalities, including duplications (1)[#2]. Genetic testing can be performed using various methods, such as chromosomal microarray analysis or quantitative PCR.
• Chromosomal Microarray Analysis: Chromosomal microarray analysis is a sophisticated diagnostic tool that can detect subtle changes in the genome, including deletions and duplications. This test has become increasingly popular for diagnosing chromosome 1p36.33 duplication syndrome (3)[#4].
• Quantitative PCR: Quantitative PCR is another genetic testing method used to diagnose chromosome 1p36.33 duplication syndrome. This test involves analyzing DNA samples from an individual to detect the presence of specific genes or gene clusters, such as the ATAD3 gene cluster (6).
• Laboratory Studies: Laboratory studies may also be performed to support the diagnosis of chromosome 1p36.33 duplication syndrome. These tests can help identify metabolic defects and other underlying conditions that contribute to the phenotype (2)[#3].

References:

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

Treatment Options for Chromosome 1p36.33 Duplication Syndrome

Chromosome 1p36.33 duplication syndrome is a rare genetic disorder characterized by the partial duplication of the short arm of chromosome 1. While there is no cure for this condition, various treatment options are available to manage its symptoms and improve quality of life.

• Medical Management: Treatment typically involves managing the symptoms associated with the condition, such as respiratory insufficiency, hypotonia, and developmental delays [4]. This may include the use of medications like high doses of oral steroids, valproic acid (VPA), levetiracetam (LEV), and others to control seizures and other related issues [3].
• Surgical Interventions: In some cases, surgical interventions may be necessary to address specific complications associated with the condition, such as cleft palate or other congenital anomalies.
• Behavioral Therapies: Children with chromosome 1p36.33 duplication syndrome often require specialized behavioral therapies to manage their developmental delays and related behavioral issues [8].
• Multidisciplinary Care: A multidisciplinary team of healthcare professionals, including medical specialists, surgeons, and therapists, is essential for providing comprehensive care and managing the complex needs associated with this condition.

It's essential to note that each individual with chromosome 1p36.33 duplication syndrome may require a unique treatment approach, and consultation with experts in various fields is crucial for developing an effective treatment plan [8].

References:

[3] Budisteanu M (2020) Various AEDs are reported in the literature for epilepsy treatment in 1p36 monosomy syndrome: high doses of oral steroids, VPA, LEV, VBG, ESM, PHB, association...

[4] Mar 23, 2020 Autosomal dominant chromosome 1p36.33 duplication syndrome is a severe multisystemic disorder characterized by neonatal respiratory insufficiency, hypotonia, ...

[8] Treatment for 1p36 deletion syndrome is mainly aimed at reducing the severity of symptoms with consultations with experts in the medical, surgical and behavior...

Chromosome 1p36.33 duplication syndrome is a rare genetic disorder characterized