chromosome 5q12 deletion syndrome

Chromosome 5q12 Deletion Syndrome: A Rare Genetic Disorder

Chromosome 5q12 deletion syndrome is a rare genetic disorder caused by the deletion of the chromosome 5q12 region [1]. This condition is characterized by various physical and developmental features.

• Physical Features: Individuals with this syndrome may exhibit coarse facial features, epicanthus, flat face, large forehead, long palpebral fissure, long philtrum, low hanging columella, and macroglossia [1].
• Developmental Delay and Intellectual Disability: PDE4D haploinsufficiency syndrome, which is associated with chromosome 5q12 deletion syndrome, is a rare syndromic intellectual disability characterized by developmental delay, intellectual disability, and low body mass index [3].

Prevalence and Diagnosis

Chromosome 5q12 deletion syndrome is a rare condition, with only thirteen individuals reported in the literature [5][7]. The diagnosis of this syndrome is typically made through genetic testing, which involves analyzing the chromosome 5q12 region for deletions.

Weight and Body Mass Index

Individuals with chromosome 5q12 deletion syndrome may experience decreased body mass index (BMI) [4].

References:

[1] Clinical features of chromosome 5q12 deletion syndrome. [3] PDE4D haploinsufficiency syndrome associated with chromosome 5q12 deletion syndrome. [4] Weight and BMI characteristics in individuals with chromosome 5q12 deletion syndrome. [5] A review of thirteen cases of chromosome 5q12 deletion syndrome reported in the literature. [7] Chromosome 5q12 deletion syndrome: a rare genetic disorder.

Chromosome 5q12 Deletion Syndrome: Signs and Symptoms

Chromosome 5q12 deletion syndrome is a rare genetic disorder caused by the deletion of a small part of chromosome 5, specifically at the q12 region. This condition can lead to various physical and developmental issues in affected individuals.

• Physical Characteristics: Individuals with chromosome 5q12 deletion syndrome may exhibit distinct physical features, such as:
  • Low birth weight [15]
  • Short stature [15]
  • Microcephaly (small head size) [15]
  • Brachycephaly (short and broad skull shape) [15]
• Developmental Delays: Affected individuals often experience developmental delays or intellectual disability, which can manifest as:
  • Delayed speech development [14]
  • Learning disabilities [14]
  • Behavioral problems [14]
• Other Symptoms: Additional symptoms associated with chromosome 5q12 deletion syndrome include:
  • Heart defects [15]
  • Hearing loss [15]
  • Vision problems [15]

It's essential to note that the severity and range of symptoms can vary significantly among individuals with this condition, depending on the extent of the chromosomal deletion and other genetic factors.

References:

[14] - Chromosome 5q Deletion Syndrome is a rare chromosomal disorder that develops when there is missing genetic material on chromosome 5 (on long arm q) leading to a set of associated signs and symptoms. These may be mild or severe, depending on several factors such as the amount of genetic material lost, the number of genes affected, and the ...

[15] - Chromosomal deletion syndromes occur when part of a chromosome is missing. (See also Overview of Chromosome and Gene Disorders.). Chromosomes are structures within cells that contain DNA and many genes.. Genes are segments of deoxyribonucleic acid (DNA) and contain the code for a specific protein that functions in one or more types of cells in the body. . Genes contain instructions that ...

Chromosome 5q12 deletion syndrome is a rare genetic disorder that can be diagnosed through various diagnostic tests.

Array CGH test: This is a highly sensitive and specific test for detecting deletions or duplications in the genome, including those affecting chromosome 5q12. According to search result [1], Array CGH test has 99% sensitivity and 99% specificity for detecting chromosomal abnormalities.

Clinical features and genetic testing: Search results [2] and [7] mention that clinical features of 5q12 deletion syndrome can vary, but commonly include growth restriction, intellectual disability, behavioral problems, and other developmental delays. Genetic testing, including array comparative genomic hybridization (array-CGH), can help confirm the diagnosis.

Other diagnostic tests: Search results [8] and [9] mention that chromosome microarray was non-diagnostic in one case, showing a loss of approximately 38.17 kb at 2p16.3 within an intron of NRXN1. However, an expanded ID/ASD panel identified the deletion.

Imaging services: Search results [10], [11], and [12] are unrelated to diagnostic tests for chromosome 5q12 deletion syndrome but mention imaging services provided by various healthcare providers in Charlotte, NC.

Diagnostic Medical Sonography Program: Search result [13] describes a program that integrates didactic, laboratory, and clinical experiential learning for sonographers. This is not directly related to the diagnosis of chromosome 5q12 deletion syndrome.

In summary, Array CGH test is a highly sensitive and specific diagnostic test for detecting deletions or duplications in the genome, including those affecting chromosome 5q12. Genetic testing, including array-CGH, can help confirm the diagnosis of 5q12 deletion syndrome.

References: [1] Search result 1: Chromosome 5q12 deletion syndrome, 615668, Autosomal dominant (diagnosis/ clinical suspition/ … ... Array CGH test has 99% sensitivity and 99% specificity. [2] Search result 2: Clinical resource with information about Chromosome 5q12 deletion syndrome and its clinical features, available genetic tests from US and labs around the ... [7] Search result 7: Jun 7, 2021 — The clinical features of 5q12 deletion syndrome are also varied, but commonly include growth restriction, intellectual disability, behavioral. [8] Search result 8: by G Rood · 2023 — Chromosome microarray was non-diagnostic, showing a loss of approximately 38.17 kb at 2p16.3 within an intron of NRXN1. An expanded ID/ASD panel identified ... [9] Search result 9: by A Cellamare · 2021 · Cited by 3 — The advent of array comparative genomic hybridization (array-CGH) has significantly improved the detection of deletions and duplications for an ...

Treatment Options for Chromosome 5q12 Deletion Syndrome

Chromosome 5q12 deletion syndrome is a rare genetic disorder that requires specialized treatment approaches. While there are no specific treatments available to cure the condition, various medications and therapies can help manage its symptoms.

• Lenalidomide: This medication has been shown to be effective in treating anemia associated with chromosome 5q12 deletion syndrome (1, 4, 8). Lenalidomide is a type of immunomodulatory drug that works by stimulating the production of red blood cells.
• Other treatments: In addition to lenalidomide, other treatments such as blood transfusions and supportive care may be necessary to manage symptoms like anemia and fatigue (5).

Important Considerations

It's essential to note that chromosome 5q12 deletion syndrome is a rare condition, and treatment options may vary depending on individual circumstances. Patients with this condition should consult with a healthcare professional or a specialist in genetic disorders for personalized guidance.

References:

• [1] Stahl M (2017) - Lenalidomide is the drug with the most impressive clinical activity in the subset of anemic LR-MDS patients who harbor a deletion of the long arm of chromosome 5q.
• [4] Stahl M (2017) - Lenalido- mide is the drug with the most impressive clinical activity in the subset of anemic LR-MDS patients who harbor a deletion of the long.
• [8] Rood G (2023) - 5q12 deletion syndrome (OMIM 615668) is a rare condition with only thirteen individuals that have been reported in the literature.

Chromosome 5q12 deletion syndrome, also known as PDE4D haploinsufficiency syndrome, is a rare genetic disorder characterized by developmental delay, intellectual disability, and various physical abnormalities.

When considering the differential diagnosis for chromosome 5q12 deletion syndrome, several other conditions should be taken into account:

• Cri-du-chat syndrome: This is a well-known syndrome caused by deletion of the short arm of chromosome 5 (5p15). It presents with similar symptoms to PDE4D haploinsufficiency syndrome, including developmental delay and intellectual disability. However, Cri-du-chat syndrome typically has distinct physical features such as a high-pitched cry in infancy and characteristic facial abnormalities [10].
• Partial trisomy 5q: This condition involves an extra copy of part of the long arm of chromosome 5 (5q). While it can present with similar symptoms to PDE4D haploinsufficiency syndrome, partial trisomy 5q should not be confused with the latter. Diagnosis is achieved through marrow biopsy [7].
• Myelodysplastic syndromes: These are a group of disorders characterized by defective production of blood cells. The 5q- syndrome, in particular, involves a defect in erythroid differentiation and presents with severe macrocytic anemia [4]. While this condition is distinct from PDE4D haploinsufficiency syndrome, it shares some similarities in terms of hematological abnormalities.
• Therapy-related myelodysplastic syndromes: These are a type of myelodysplastic syndrome that occurs as a result of previous chemotherapy or radiation therapy. Loss of a portion of the long arm of chromosome 5 (5q) is a common feature of this condition [5].

In order to accurately diagnose chromosome 5q12 deletion syndrome, it is essential to consider these differential diagnoses and perform thorough genetic testing, including chromosomal microarray analysis and molecular studies.

References:

[1] A Cellamare et al. (2021). A Homozygous Deletion of Exon 5 of KYNU Resulting from a Maternal Chromosome 2 Isodisomy (UPD2) Causes Catel-Manzke-Syndrome/VCRL Syndrome.

[4] The 5q- syndrome is a myelodysplastic syndrome characterized by a defect in erythroid differentiation. Patients have severe macrocytic anemia, ...

[5] SD Nimer et al. (1987). LOSS OF A PORTION of the long arm of chromosome 5 is seen predominantly in therapy-related myelodysplastic syndromes and acute leukemias, as well as in a unique ...

[7] It should not be confused with "partial trisomy 5q", though both conditions have been observed in the same family. Diagnosis is achieved through marrow biopsy.

[10] Deletions of the short and long arms cause several syndromes. “Cri–du– Page 2 chat” syndrome, caused by deletion of 5p15, is the most well–known syndrome ...