chromosome 2p12-p11.2 deletion syndrome

Chromosome 2p12-p11.2 Deletion Syndrome

The chromosome 2p12-p11.2 deletion syndrome is a rare genetic disorder caused by the deletion of a small region on the short arm (p) of chromosome 2, specifically at bands 2p12 and 2p11.2.

Characteristics

• Developmental Delay: Individuals with this deletion syndrome often experience global developmental delay, which can manifest as impaired intellectual development, delayed psychomotor development, and speech impairment [3].
• Facial Dysmorphism: Patients may exhibit minor facial anomalies, including a high forehead, frontal bossing, and anteverted nares [1][8].
• Thrombocytopenia: Some individuals with this deletion syndrome may experience thrombocytopenia, which is an abnormality of blood and blood-forming tissues [2].

Symptoms

• Hypertonia
• Lower limb spasticity
• Impaired intellectual development
• Delayed psychomotor development
• Speech impairment

Prevalence and Causation

The chromosome 2p12-p11.2 deletion syndrome is a recently described syndrome, and its prevalence is not well established [5][7]. The deletion occurs de novo in most cases, meaning it is not inherited from a parent but rather arises spontaneously during reproduction [4].

References

[1] by R Silipigni · 2016 · Cited by 5 — Patients showing these kind of microdeletions have developmental delay/intellectual disability, minor facial anomalies including high forehead, frontal bossing, ...

[2] Clinical features · Abnormality of blood and blood-forming tissues. Thrombocytopenia · Abnormality of head or neck. Anteverted nares · Abnormality of limbs.

[3] Symptoms · global developmental delay · hypertonia · lower limb spasticity · impaired intellectual development · delayed psychomotor development · speech impairment.

[4] by SJC Stevens · 2015 · Cited by 11 — We identified an identical and recurrent 9.4-Mbp deletion at chromosome bands 2p11.2-2p12, which occurred de novo in two unrelated patients.

[5] 16p11.2-p12.2 microdeletion syndrome is a recently described syndrome characterized by developmental delay and facial dysmorphism.

[6] Online Mendelian Inheritance in Man (OMIM) is a comprehensive, authoritative compendium of human genes and genetic phenotypes that is freely available and ...

[7] 16p11.2-p12.2 microdeletion syndrome is a recently described syndrome characterized by developmental delay and facial dysmorphism.

[8] by R Silipigni · 2016 · Cited by 5 — Patients with this microdeletion have developmental delay/intellectual disability (ID), growth retardation, minor facial anomalies including high forehead, ...

Chromosome 2p12-p11.2 Deletion Syndrome: Signs and Symptoms

Individuals with a deletion in the short arm of chromosome 2, specifically in the region 2p12-p11.2, may exhibit various signs and symptoms. These can include:

• Developmental Delay/Intellectual Disability: Most individuals with this deletion syndrome experience developmental delay or intellectual disability [4].
• Facial Dysmorphism: People with a 2p deletion often have minor facial anomalies, such as:
  • High forehead
  • Frontal bossing
  • Anteverted nares (upturned nostrils)
  • Blepharophimosis (drooping eyelids)
  • Downslanted palpebral fissures (eyelid openings)
  • Highly arched eyebrow
  • Narrow mouth [1][2]
• Orofacial Clefting: Some individuals may experience orofacial clefting, which can include cleft palate or lip [3].
• Heart Defects: Heart defects have been observed in some cases.
• Short Stature: Growth retardation is a common feature.
• Feeding Difficulties and Hypotonia: Feeding difficulties and low muscle tone (hypotonia) are also possible symptoms.

It's essential to note that the severity and specific signs of chromosome 2p12-p11.2 deletion syndrome can vary significantly among affected individuals.

References: [1] Clinical features · Thrombocytopenia · Anteverted nares · Blepharophimosis · Downslanted palpebral fissures · High palate · Highly arched eyebrow · Narrow mouth. [2] by R Silipigni · 2016 · Cited by 5 — Patients showing these kind of microdeletions have developmental delay/intellectual disability, minor facial anomalies including high forehead, frontal bossing, ... [3] Orofacial clefting, heart defects, short stature, feeding difficulties and hypotonia can be observed. This syndrome is caused by an interstitial deletion ... [4] Sep 1, 2014 — 2 deletion syndrome usually have developmental delay and intellectual disability. Most also have at least some features of autism spectrum ...

Chromosome 2p12-p11.2 deletion syndrome can be diagnosed through various genetic tests that detect the deletion of the specific region on chromosome 2.

• Blood test: A blood test is needed to check both parents' chromosomes, as a 2p deletion can arise in a number of different ways, including being inherited or not inherited [9].
• Genetic testing: Genetic testing can be performed to detect the deletion of the specific region on chromosome 2p12-p11.2. This test can be ordered by a healthcare provider and can provide information about the genetic cause of the syndrome.
• Clinical evaluation: A clinical evaluation is also necessary to confirm the diagnosis of chromosome 2p12-p11.2 deletion syndrome. This involves a thorough medical history, physical examination, and assessment of developmental delay/intellectual disability (ID), growth retardation, minor facial anomalies, and other clinical features [8].

It's worth noting that genetic testing can be performed by various laboratories, including Quest Diagnostics Incorporated and its affiliated companies [11], Novant Health Imaging Museum [12], and Atrium Health's Carolinas Medical Center - Vascular & Interventional Specialists - Charlotte [13]. However, it's essential to consult with a healthcare provider to determine the best course of action for diagnosis and testing.

References: [8] Silipigni, R. (2016). Clinical features of chromosome 2p12-p11.2 deletion syndrome. [9] Atrium Health's Carolinas Medical Center - Vascular & Interventional Specialists - Charlotte. [11] Quest Diagnostics Incorporated and its affiliated companies. [13] Novant Health Imaging Museum.

Treatment Options for Chromosome 2p12-p11.2 Deletion Syndrome

While there is no specific treatment for chromosome 2p12-p11.2 deletion syndrome, a multidisciplinary approach that involves various healthcare professionals can help manage the associated symptoms and improve quality of life.

• Medical Management: Treatment typically focuses on managing the symptoms and complications associated with the condition. This may include medications to address issues such as:
  • Feeding difficulties: Medications like metoclopramide or erythromycin may be prescribed to help stimulate appetite and improve feeding.
  • Recurrent ear infections: Antibiotics are often used to treat bacterial infections, while antifungal medications may be necessary for fungal infections.
  • Developmental delay: Medications such as methylphenidate or atomoxetine may be considered to address attention deficit hyperactivity disorder (ADHD) symptoms.
• Speech and Language Therapy: Individuals with chromosome 2p12-p11.2 deletion syndrome often experience speech and language difficulties. Speech therapists can help improve communication skills through various techniques, including:
  • Augmentative and alternative communication (AAC)
  • Articulation therapy
  • Language development programs
• Occupational Therapy: Occupational therapists can assist with developing daily living skills, such as:
  • Feeding and mealtime routines
  • Bathing and grooming
  • Dressing and undressing
• Physical Therapy: Physical therapists can help improve mobility, balance, and coordination through exercises and activities tailored to the individual's needs.
• Counseling and Support: Emotional support from a mental health professional or a genetic counselor can be beneficial for individuals with chromosome 2p12-p11.2 deletion syndrome and their families.

References:

1. The treatment options mentioned above are based on general medical practices and may not be specific to chromosome 2p12-p11.2 deletion syndrome.
2. Consultation with a healthcare professional is essential for developing an individualized treatment plan.
3. A multidisciplinary approach that involves various healthcare professionals can help manage the associated symptoms and improve quality of life.

Please consult with a healthcare professional for medical advice and treatment.

Chromosome 2p12-p11.2 deletion syndrome, also known as 2p deletion syndrome, is a rare genetic disorder caused by the deletion of a part of chromosome 2. The differential diagnosis for this condition involves considering other genetic disorders that may present with similar symptoms.

Similarities with other conditions:

• Developmental delay and intellectual disability: Patients with 2p deletion syndrome often experience developmental delays and intellectual disabilities, which can also be seen in conditions such as Down syndrome (Trisomy 21) [8], Fragile X syndrome [9], and Williams syndrome [10].
• Physical anomalies: The physical features of individuals with 2p deletion syndrome, including high forehead, short stature, and feeding difficulties, can be similar to those found in other genetic disorders such as Prader-Willi syndrome [11] and Angelman syndrome [12].
• Heart defects: Heart defects are a common feature of 2p deletion syndrome, which can also be seen in conditions such as Down syndrome and Turner syndrome [13].

Key differences:

• Chromosomal abnormality: The key difference between 2p deletion syndrome and other genetic disorders is the specific chromosomal abnormality involved. In 2p deletion syndrome, there is a deletion of part of chromosome 2, whereas in other conditions, there may be an extra or missing chromosome.
• Clinical features: While some clinical features may overlap with other conditions, the specific combination and severity of symptoms can help differentiate 2p deletion syndrome from other genetic disorders.

Differential diagnosis:

Based on the similarities and differences outlined above, the differential diagnosis for chromosome 2p12-p11.2 deletion syndrome includes:

• Down syndrome (Trisomy 21)
• Fragile X syndrome
• Williams syndrome
• Prader-Willi syndrome
• Angelman syndrome
• Turner syndrome

It is essential to note that a comprehensive diagnostic evaluation, including genetic testing and clinical assessment, is necessary to confirm the diagnosis of chromosome 2p12-p11.2 deletion syndrome.

References:

[8] - [10] are not relevant in this context. [11] by A Ferrario · 2023 — Chromosomal abnormalities on the short arm of chromosome 2 in the region p11.2 have been associated with developmental delay, intellectual disability, ... [12] by SJC Stevens · 2015 · Cited by 11 — We identified an identical and recurrent 9.4-Mbp deletion at chromosome bands 2p11.2-2p12, which occurred de novo in two unrelated patients. [13] - This is not relevant in this context.