2q37 deletion syndrome: Difference between revisions

Revision as of 16:28, 16 February 2025

2q37 Deletion Syndrome

2q37 Deletion Syndrome is a rare genetic disorder caused by a deletion of a segment on the long arm (q) of chromosome 2. This condition is characterized by a variety of physical, developmental, and behavioral features.

Genetic Basis

2q37 Deletion Syndrome is caused by a deletion of genetic material on chromosome 2 at the q37 location. The size of the deletion can vary among individuals, leading to a range of symptoms. The syndrome is typically not inherited but occurs as a de novo mutation. However, in some cases, it can be inherited in an autosomal dominant manner if a parent carries a balanced translocation involving chromosome 2.

Clinical Features

Individuals with 2q37 Deletion Syndrome may present with:

Developmental delay and intellectual disability
Distinctive facial features, such as a prominent forehead, thin upper lip, and a flat nasal bridge
Short stature
Brachydactyly (short fingers and toes)
Hypotonia (reduced muscle tone)
Behavioral issues, including autism spectrum disorder and attention deficit hyperactivity disorder (ADHD)

Diagnosis

Diagnosis of 2q37 Deletion Syndrome is typically made through genetic testing, such as chromosomal microarray analysis or karyotyping, which can identify the deletion on chromosome 2. Clinical evaluation and assessment of symptoms also play a crucial role in diagnosis.

Management

There is no cure for 2q37 Deletion Syndrome, and treatment is symptomatic and supportive. Management may include:

Early intervention programs and special education to address developmental delays
Physical therapy to improve muscle tone and motor skills
Behavioral therapy to manage behavioral issues
Regular monitoring by a multidisciplinary team of healthcare providers

Prognosis

The prognosis for individuals with 2q37 Deletion Syndrome varies depending on the severity of symptoms and the size of the deletion. With appropriate support and interventions, many individuals can lead fulfilling lives.

Related Pages

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-{{Short description|A genetic disorder caused by the deletion of a segment on chromosome 2}}
+== 2q37 Deletion Syndrome ==
-'''2q37 deletion syndrome''' is a rare genetic disorder characterized by the deletion of a segment on the long arm (q) of chromosome 2. This condition is associated with a variety of physical, developmental, and behavioral features.
+[[File:Autosomal_dominant_-_en.svg|thumb|right|Diagram of autosomal dominant inheritance.]]
-==Genetics==
+'''2q37 Deletion Syndrome''' is a rare genetic disorder caused by a deletion of a segment on the long arm (q) of chromosome 2. This condition is characterized by a variety of physical, developmental, and behavioral features.
-q37 deletion syndrome is caused by a deletion of genetic material on chromosome 2 at the q37 location. The size of the deletion can vary among affected individuals, which contributes to the variability in symptoms and severity. The deletion can occur de novo or be inherited in an [[autosomal dominant]] manner.
-[[File:Autosomal_dominant_-_en.svg|thumb|right|200px|Inheritance pattern of an autosomal dominant disorder.]]
+=== Genetic Basis ===
-==Clinical Features==
+q37 Deletion Syndrome is caused by a deletion of genetic material on chromosome 2 at the q37 location. The size of the deletion can vary among individuals, leading to a range of symptoms. The syndrome is typically not inherited but occurs as a de novo mutation. However, in some cases, it can be inherited in an [[autosomal dominant]] manner if a parent carries a balanced translocation involving chromosome 2.
-Individuals with 2q37 deletion syndrome may present with a range of clinical features, including:
-* '''Developmental delay''': Many affected individuals experience delays in reaching developmental milestones, such as sitting, walking, and talking.
+=== Clinical Features ===
-* '''Intellectual disability''': The degree of intellectual disability can vary from mild to severe.
-* '''Behavioral issues''': Some individuals may exhibit behavioral problems, including [[autism spectrum disorder]]-like behaviors.
-* '''Distinctive facial features''': These may include a prominent forehead, a flat nasal bridge, and a thin upper lip.
-* '''Skeletal abnormalities''': Such as brachydactyly (short fingers and toes) and other bone malformations.
-* '''Obesity''': A tendency towards obesity is common in individuals with this syndrome.
-==Diagnosis==
+Individuals with 2q37 Deletion Syndrome may present with:
-Diagnosis of 2q37 deletion syndrome is typically made through genetic testing, such as [[chromosomal microarray analysis]] or [[karyotyping]], which can identify the deletion on chromosome 2.
-==Management==
+* Developmental delay and intellectual disability
-There is no cure for 2q37 deletion syndrome, and treatment is symptomatic and supportive. Management may involve:
+* Distinctive facial features, such as a prominent forehead, thin upper lip, and a flat nasal bridge
+* Short stature
+* Brachydactyly (short fingers and toes)
+* Hypotonia (reduced muscle tone)
+* Behavioral issues, including autism spectrum disorder and attention deficit hyperactivity disorder (ADHD)
-* '''Early intervention programs''': To address developmental delays and improve skills.
+=== Diagnosis ===
-* '''Special education services''': Tailored to the individual's needs.
-* '''Behavioral therapy''': To manage behavioral issues and improve social skills.
-* '''Regular monitoring''': By a multidisciplinary team to address any emerging health concerns.
-==Prognosis==
+Diagnosis of 2q37 Deletion Syndrome is typically made through genetic testing, such as [[chromosomal microarray analysis]] or [[karyotyping]], which can identify the deletion on chromosome 2. Clinical evaluation and assessment of symptoms also play a crucial role in diagnosis.
-The prognosis for individuals with 2q37 deletion syndrome varies depending on the severity of symptoms and the presence of associated health issues. With appropriate support and interventions, many individuals can lead fulfilling lives.
+=== Management ===
+There is no cure for 2q37 Deletion Syndrome, and treatment is symptomatic and supportive. Management may include:
+* Early intervention programs and special education to address developmental delays
+* Physical therapy to improve muscle tone and motor skills
+* Behavioral therapy to manage behavioral issues
+* Regular monitoring by a multidisciplinary team of healthcare providers
+=== Prognosis ===
+The prognosis for individuals with 2q37 Deletion Syndrome varies depending on the severity of symptoms and the size of the deletion. With appropriate support and interventions, many individuals can lead fulfilling lives.
+== Related Pages ==
-==Related pages==
 * [[Chromosome 2]]
 * [[Genetic disorder]]
 * [[Autosomal dominant]]
-* [[Intellectual disability]]
+* [[Developmental delay]]
+{{Genetic disorders}}
-==Gallery==
-<gallery>
-File:Autosomal_dominant_-_en.svg|Inheritance pattern of an autosomal dominant disorder.
-</gallery>
-{{Medical genetics}}
 [[Category:Genetic disorders]]
 [[Category:Rare diseases]]
-[[Category:Syndromes]]