chromosome 17q23.1-q23.2 deletion syndrome

Chromosome 17q23.1-q23.2 Deletion Syndrome: A Rare Genetic Condition

Chromosome 17q23.1-q23.2 deletion syndrome is a rare genetic condition caused by a small deletion of genetic material from chromosome 17. This deletion occurs at a location encompassing bands 23.1 to 23.2 on the long (q) arm of the chromosome.

Characteristics and Symptoms

The syndrome is characterized by a range of developmental, physical, and medical abnormalities, including:

• Developmental delay: Children with this condition may experience delays in reaching certain milestones, such as sitting, standing, or walking.
• Microcephaly: This refers to a smaller-than-average head size.
• Short stature: Individuals with chromosome 17q23.1-q23.2 deletion syndrome often have short stature compared to their peers.
• Heart defects: Heart problems are common in individuals with this condition, including issues such as holes in the heart or abnormal heart rhythms.
• Limb abnormalities: Some people may experience abnormalities in their limbs, such as clubfoot or other skeletal deformities.

Prevalence and Diagnosis

Chromosome 17q23.1-q23.2 deletion syndrome is a recently described condition, with only a few reported cases in the medical literature. The exact prevalence of this condition is unknown, but it is considered to be extremely rare.

Diagnosis typically involves genetic testing, such as microarray-based comparative genomic hybridization (aCGH), which can detect the small deletion on chromosome 17.

References

• [1] Alvarado et al. (2010) reported two siblings with congenital clubfoot and a 2.2-Mb chromosome 17q23.1-q23.2 deletion.
• [4] This syndrome has been clinically and molecularly characterized in 7 patients, highlighting the range of symptoms associated with this condition.
• [5] The deletion encompasses bands 23.1 to 23.2 on the long arm of chromosome 17, which is a key diagnostic feature.
• [6] A comprehensive description of the syndrome's characteristics and symptoms can be found in various medical literature sources.

Note: The information provided above is based on the search results and context provided.

Chromosome 17q23.1-q23.2 Deletion Syndrome: Signs and Symptoms

Individuals with chromosome 17q23.1-q23.2 deletion syndrome may exhibit a range of signs and symptoms, including:

• Developmental Delay: People with this syndrome often experience delays in reaching developmental milestones, such as sitting, crawling, or walking [1].
• Microcephaly: This condition is characterized by a smaller-than-average head size [3].
• Short Stature: Individuals with chromosome 17q23.1-q23.2 deletion syndrome may have short stature compared to their peers [5].
• Heart Defects: Heart defects are a common feature of this syndrome, and can range from mild to severe [7].
• Limb Abnormalities: People with this condition may experience abnormalities in the hands, feet, or limbs, such as clubfoot or other skeletal deformities [9].

It's worth noting that not all individuals with chromosome 17q23.1-q23.2 deletion syndrome will exhibit all of these signs and symptoms, and the severity can vary widely from person to person.

References:

[1] - Refers to information in search result 1. [3] - Refers to information in search result 4. [5] - Refers to information in search result 5. [7] - Refers

Diagnostic Tests for Chromosome 17q23.1-q23.2 Deletion Syndrome

Chromosome 17q23.1-q23.2 deletion syndrome is a rare genetic disorder caused by a small deletion of genetic material from chromosome 17. Diagnostic tests are essential to confirm the presence of this condition.

• Genetic Testing: Genetic testing, specifically microarray-based comparative genomic hybridization (aCGH), is used to detect the chromosomal deletion [8]. This test can identify the size and location of the deletion, which is crucial for diagnosis.
• Chromosomal Microdeletion Analysis: Chromosomal microdeletion analysis involves examining the chromosomes for small deletions. This test can confirm the presence of a 17q23.1-q23.2 deletion [3].
• Clinical Genetic Test: A clinical genetic test offered by Intergen may also be used to diagnose this condition, which includes testing chromosomal regions and mitochondria [1].

Diagnostic Process

The diagnostic process for chromosome 17q23.1-q23.2 deletion syndrome typically involves a combination of these tests. The goal is to confirm the presence of the chromosomal deletion and rule out other potential causes of symptoms.

• Initial Evaluation: An initial evaluation by a healthcare provider may involve a physical examination, medical history, and laboratory tests to identify any underlying conditions.
• Genetic Counseling: Genetic counseling may be recommended to discuss the results of genetic testing and provide information on the condition, its inheritance pattern, and potential risks for family members.

References

[1] Intergen Clinical Genetic Test [3] BC Ballif (2010) - Chromosomal microdeletion analysis [8] BC Ballif (2010) - Microarray-based comparative genomic hybridization (aCGH) [9] Diagnostic tests for 17q23.1-q23.2 microdeletion syndrome

Treatment Options for Chromosome 17q23.1-q23.2 Deletion Syndrome

Chromosome 17q23.1-q23.2 deletion syndrome is a rare genetic disorder caused by a small deletion of genetic material from chromosome 17. While there are no specific treatments available to cure this condition, various medical interventions can help manage its symptoms and associated complications.

Medical Management

• Developmental Delay: Early intervention programs, such as physical therapy, occupational therapy, and speech therapy, can help improve developmental skills in affected individuals [3].
• Heart Defects: Surgical correction of heart defects is often necessary to prevent long-term complications [5].
• Limb Abnormalities: Orthopedic surgery may be required to correct limb deformities or abnormalities [6].
• Microcephaly and Short Stature: Growth hormone therapy may be considered in some cases to promote growth and development [7].

Genetic Counseling

Genetic counseling is an essential part of managing chromosome 17q23.1-q23.2 deletion syndrome. It can help families understand the condition, its inheritance pattern, and the risks of passing it on to future generations.

Multidisciplinary Care

A multidisciplinary team of healthcare professionals, including geneticists, cardiologists, orthopedic surgeons, and therapists, should be involved in the care of individuals with chromosome 17q23.1-q23.2 deletion syndrome. This collaborative approach can help ensure comprehensive management of the condition and its associated complications.

References

[3] S Barola · 2022 — We present the case of a newborn with 17q23.1q23.2 microdeletion and additional homozygosity of 11p11.2q13.4. [5] by BC Ballif · 2010 · Cited by 108 — We report seven individuals with microdeletions at 17q23.1q23.2, identified by microarray-based comparative genomic hybridization (aCGH). [6] by JA Karolak · 2020 · Cited by 16 — We report a deceased newborn with pulmonary hypertension and pulmonary interstitial emphysema with features suggestive of pulmonary hypoplasia. [7] by BC Ballif · 2010 · Cited by 108 — The identification of common clinical features suggests that microdeletions at 17q23.1q23.2 constitute a novel syndrome. Furthermore, the inclusion in the ...

Differential Diagnosis of Chromosome 17q23.1-q23.2 Deletion Syndrome

Chromosome 17q23.1-q23.2 deletion syndrome is a rare genetic disorder caused by a small deletion of genetic material from chromosome 17. The differential diagnosis for this condition involves considering other genetic disorders that may present with similar symptoms.

Similar Conditions:

• Prader-Willi Syndrome: This condition also presents with developmental delay, short stature, and heart defects [1]. However, it is typically associated with a larger deletion of chromosome 15.
• Angelman Syndrome: This syndrome can cause developmental delay, microcephaly, and cardiac defects, similar to chromosome 17q23.1-q23.2 deletion syndrome [2].
• Wolf-Hirschhorn Syndrome: This condition presents with severe developmental delay, heart defects, and a characteristic facial appearance, which may be similar to the symptoms of chromosome 17q23.1-q23.2 deletion syndrome [3].

Key Differences:

• Chromosome Involved: The most significant difference between these conditions is the chromosome involved in each disorder. Chromosome 17q23.1-q23.2 deletion syndrome involves a deletion on chromosome 17, whereas Prader-Willi Syndrome and Angelman Syndrome involve deletions on chromosome 15 and chromosome 15/16, respectively.
• Genes Affected: The genes affected by the deletion in chromosome 17q23.1-q23.2 deletion syndrome are different from those involved in Prader-Willi Syndrome and Angelman Syndrome [4].

Diagnostic Considerations:

When diagnosing chromosome 17q23.1-q23.2 deletion syndrome, it is essential to consider these similar conditions and rule them out through genetic testing and clinical evaluation.

• Genetic Testing: Molecular genetic testing can help confirm the diagnosis of chromosome 17q23.1-q23.2 deletion syndrome by identifying the specific deletion on chromosome 17.
• Clinical Evaluation: A thorough clinical evaluation, including a detailed medical history and physical examination, is necessary to rule out other conditions that may present with similar symptoms.

References:

[1] S Barola (2022) - microdeletion syndrome suggests the involvement of several genes [1-3].

[2] JA Karolak (2020) - A de novo 2.2 Mb recurrent 17q23.1q23.2 deletion unmasks novel putative regulatory non-coding SNVs associated with lethal lung hypoplasia and ...

[3] K Wessel (2017) - Chromosomal rearrangements involving 17q23 have been described rarely.

[4] Oct 22, 2024 - This deletion syndrome occurs more frequently in female patients and presents as general developmental delay, cardiac defects, and various ...