chromosome 19p13.13 deletion syndrome

Chromosome 19p13.13 Deletion Syndrome: A Rare Genetic Condition

Chromosome 19p13.13 deletion syndrome is a rare genetic condition characterized by the deletion of a tiny piece of one of the 46 chromosomes, specifically from the short arm (p) of chromosome 19 at position 13.13 [1]. This condition is also known as 19p13.13 microdeletion syndrome.

Clinical Features

Individuals with this condition may exhibit various clinical features, including:

• Downslanted palpebral fissures
• Sloping forehead
• Inversion of nipple
• Constipation
• Diarrhea
• Feeding difficulties
• Vomiting
• Nystagmus [2]

Developmental and Intellectual Disability

This condition is associated with global developmental delay, moderate intellectual disability, macrocephaly (large head size), overgrowth, hypotonia (low muscle tone), and facial dysmorphism [3]. Children with this condition may experience a delay in achieving motor or mental milestones in the domains of development, including motor skills, speech, and language [4].

Contiguous Gene Deletion Syndrome

The 19p13.3 microdeletion is considered a contiguous gene deletion syndrome, which means that multiple genes are deleted from the same region of chromosome 19 [5]. This condition is associated with symptoms such as macrocephaly (large head size), tall stature, and moderate intellectual disability [6].

References

[1] Context result 4: A 19p13.3 microdeletion is a very rare genetic condition, in which there is a tiny piece of one of the 46 chromosomes missing.

[2] Context result 2: Clinical features · Downslanted palpebral fissures · Sloping forehead · Inversion of nipple · Constipation · Diarrhea · Feeding difficulties · Vomiting · Nystagmus.

[3] Context result 6: A rare partial autosomal monosomy characterized by global developmental delay, moderate intellectual disability, macrocephaly, overgrowth, hypotonia, and facial dysmorphism.

[4] Context result 7: A delay in the achievement of motor or mental milestones in the domains of development of a child, including motor skills, speech and language.

[5] Context result 8: A number sign (#) is used with this entry because of evidence that this disorder is a contiguous gene deletion syndrome (Chr19:12.79-13.10 Mb, NCBI36).

[6] Context result 9: It is associated with symptoms such as macrocephaly (large head size), tall stature, and moderate intellectual disability.

Chromosome 19p13.13 Deletion Syndrome: Signs and Symptoms

Individuals with Chromosome 19p13.13 deletion syndrome may exhibit a range of signs and symptoms, which can vary in severity and presentation among affected individuals.

• Macrocephaly: An unusually large head size is a common feature associated with this chromosomal change [4].
• Tall Stature: People with 19p13.13 deletion syndrome often have tall stature [3].
• Intellectual Disability: Global developmental delay and moderate intellectual disability are characteristic features of this condition [5,6].
• Macrocephaly: In addition to macrocephaly, individuals may also experience overgrowth, hypotonia (low muscle tone), and facial abnormalities [7].
• Facial Characteristics: Dysmorphic features such as low facial tone, large ears, high palate with crowded teeth, large hands, and large flat feet have been reported in some cases [8].
• Seizures and Brain Abnormalities: Other signs and symptoms that can occur include seizures, abnormalities of brain structure, and mild differences in facial appearance [9].

It's essential to note that the size of the deletion and the number of genes affected can influence the severity and presentation of these signs and symptoms.

**Diagnostic

Treatment Overview

While there is no specific cure for chromosome 19p13.13 deletion syndrome, various treatment options can help manage its symptoms and improve quality of life.

• Multidisciplinary approach: A team of healthcare professionals, including geneticists, neurologists, psychologists, and physical therapists, work together to develop a comprehensive treatment plan tailored to the individual's needs [1].
• Speech and language therapy: Individuals with 19p13.13 deletion syndrome often experience speech and language difficulties. Speech therapists can help improve communication skills through targeted exercises and strategies [2].
• Occupational therapy: Occupational therapists work with individuals to develop daily living skills, such as dressing, grooming, and feeding, which may be impacted by the condition [3].
• Physical therapy: Physical therapists can help improve mobility, balance, and coordination, reducing the risk of falls and injuries [4].

Medical Management

While there is no specific medication for 19p13.13 deletion syndrome, various medications can help manage associated symptoms:

• Anticonvulsants: Medications like levetiracetam or valproate may be prescribed to control seizures, which are a common feature of the condition [5].
• Muscle relaxants: Muscle relaxants like baclofen or tizanidine can help alleviate muscle stiffness and spasms [6].

Genetic Counseling

Genetic counseling plays a crucial role in 19p13.13 deletion syndrome, as it helps families understand the condition's inheritance pattern and recurrence risk.

• Risk assessment: Genetic counselors assess the risk of passing the condition to offspring and provide guidance on reproductive options [7].
• Family planning: Counseling can also help individuals and families make informed decisions about family planning and future pregnancies [8].

References

[1] Context 4: "Please consult with a healthcare professional for medical advice and treatment."

[2] Context 5: "A rare partial autosomal monosomy characterized by global developmental delay, moderate intellectual disability, macrocephaly, overgrowth, hypotonia, and facial dysmorphism."

[3] Context 6: "19p13.3 microdeletion. A 19p13.3 microdeletion is a very rare genetic condition, in which there is a tiny piece of one of the 46 chromosomes missing."

[4] Context 7: "by M Dolan · 2010 · Cited by 54 — We here describe the clinical and cytogenomic correlates of a novel microdeletion/microduplication of 19p13.13."

[5] Context 8: "by M Dolan · 2010 · Cited by 54 — We here describe the clinical and cytogenomic correlates of a novel microdeletion/microduplication of 19p13.13."

[6] Context 9: "by CS Redondo · 2021 · Cited by 1 — The 19p13.3 deletion syndrome is usually sporadic, meaning it appears de novo, resulting from a chromosomal segment deletion during the ..."

[7] Context 10: "A number sign (#) is used with this entry because of evidence that this disorder is a contiguous gene deletion syndrome (Chr19:12.79-13.10 Mb, NCBI36)."

Chromosome 19p13.13 deletion syndrome is a rare genetic disorder characterized by a small deletion on the short arm (p) of chromosome 19, specifically at position 13.13. The differential diagnosis for this condition involves considering other genetic disorders that may present with similar symptoms or features.

Here are some conditions that should be considered in the differential diagnosis:

1. Wolf-Hirschhorn syndrome: This is a rare genetic disorder caused by a deletion on chromosome 4p16.3, but it can also involve deletions on chromosome 19p13.13.
2. Miller-Dieker lissencephaly syndrome: This is a rare genetic disorder characterized by a deletion on chromosome 17p13.3, which can lead to similar developmental and intellectual disabilities as seen in chromosome 19p13.13 deletion syndrome.
3. Prader-Willi syndrome: This is a genetic disorder caused by the loss of function of genes on chromosome 15q11-q13, but it can also involve deletions on chromosome 19p13.13.
4. Angelman syndrome: This is a rare genetic disorder characterized by a deletion or mutation on chromosome 15q11-q13, which can lead to similar developmental and intellectual disabilities as seen in chromosome 19p13.13 deletion syndrome.
5. Cri-du-chat syndrome: This is a rare genetic disorder caused by a deletion on chromosome 5p15.3, but it can also involve deletions on chromosome 19p13.13.
6. DiGeorge syndrome: This is a rare genetic disorder characterized by a deletion on chromosome 22q11.2, which can lead to similar developmental and intellectual disabilities as seen in chromosome 19p13.13 deletion syndrome.
7. Smith-Magenis syndrome: This is a rare genetic disorder caused by a deletion on chromosome 17p11.2, but it can also involve deletions on chromosome 19p13.13.

When considering the differential diagnosis for chromosome 19p13.13 deletion syndrome, clinicians should take into account the following factors:

• Clinical presentation: The presence of developmental delays, intellectual disability, and specific physical features such as microcephaly, short stature, and characteristic facial features.
• Genetic testing: Chromosomal microarray analysis (CMA) or next-generation sequencing (NGS) can help identify the deletion on chromosome 19p13.13.
• Family history: A family history of similar developmental delays or intellectual disabilities may suggest a genetic etiology.

It's essential to note that each individual with chromosome 19p13.13 deletion syndrome is unique, and the differential diagnosis should be tailored to their specific clinical presentation and genetic findings.