2q37 deletion syndrome: Difference between revisions

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{{Short description|A genetic disorder caused by the deletion of a segment on chromosome 2}}
{{Infobox medical condition
| name                    = 2q37 deletion syndrome
| image                  = [[File:Autosomal_dominant_-_en.svg]]
| caption                = 2q37 deletion syndrome is inherited in an [[autosomal dominant]] manner
| synonyms                = Brachydactyly-mental retardation syndrome
| pronounce              =
| specialty              = [[Medical genetics]]
| symptoms                = [[Developmental delay]], [[intellectual disability]], [[brachydactyly]], [[hypotonia]], [[obesity]], [[seizures]]
| onset                  = [[Congenital]]
| duration                = Lifelong
| causes                  = [[Genetic mutation]]
| risks                  =
| diagnosis              = [[Genetic testing]], [[chromosomal microarray analysis]]
| differential            = [[Prader-Willi syndrome]], [[Angelman syndrome]], [[Smith-Magenis syndrome]]
| prevention              =
| treatment              = [[Supportive care]], [[physical therapy]], [[occupational therapy]], [[speech therapy]]
| medication              =
| prognosis              = Varies
| frequency              = Rare
| deaths                  =
}}
'''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.


'''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.
=== Genetic Basis ===


==Genetics==
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.
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 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.]]
=== Clinical Features ===


==Clinical Features==
Individuals with 2q37 Deletion Syndrome may present with:
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.
* Developmental delay and intellectual disability
* '''Intellectual disability''': The degree of intellectual disability can vary from mild to severe.
* Distinctive facial features, such as a prominent forehead, thin upper lip, and a flat nasal bridge
* '''Behavioral issues''': Some individuals may exhibit behavioral problems, including [[autism spectrum disorder]]-like behaviors.
* Short stature
* '''Distinctive facial features''': These may include a prominent forehead, a flat nasal bridge, and a thin upper lip.
* Brachydactyly (short fingers and toes)
* '''Skeletal abnormalities''': Such as brachydactyly (short fingers and toes) and other bone malformations.
* Hypotonia (reduced muscle tone)
* '''Obesity''': A tendency towards obesity is common in individuals with this syndrome.
* Behavioral issues, including autism spectrum disorder and attention deficit hyperactivity disorder (ADHD)


==Diagnosis==
=== 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.


==Management==
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.
There is no cure for 2q37 deletion syndrome, and treatment is symptomatic and supportive. Management may involve:


* '''Early intervention programs''': To address developmental delays and improve skills.
=== Management ===
* '''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==
There is no cure for 2q37 Deletion Syndrome, and treatment is symptomatic and supportive. Management may include:
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.
 
* 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]]
* [[Chromosome 2]]
* [[Genetic disorder]]
* [[Genetic disorder]]
* [[Autosomal dominant]]
* [[Autosomal dominant]]
* [[Intellectual disability]]
* [[Developmental delay]]


==Gallery==
{{Genetic disorders}}
<gallery>
{{Genetics-stub}}
File:Autosomal_dominant_-_en.svg|Inheritance pattern of an autosomal dominant disorder.
</gallery>
{{Medical genetics}}
[[Category:Genetic disorders]]
[[Category:Genetic disorders]]
[[Category:Rare diseases]]
[[Category:Rare diseases]]
[[Category:Syndromes]]
{{nt}}

Latest revision as of 03:57, 25 March 2025

2q37 deletion syndrome
Synonyms Brachydactyly-mental retardation syndrome
Pronounce
Specialty Medical genetics
Symptoms Developmental delay, intellectual disability, brachydactyly, hypotonia, obesity, seizures
Complications N/A
Onset Congenital
Duration Lifelong
Types N/A
Causes Genetic mutation
Risks
Diagnosis Genetic testing, chromosomal microarray analysis
Differential diagnosis Prader-Willi syndrome, Angelman syndrome, Smith-Magenis syndrome
Prevention
Treatment Supportive care, physical therapy, occupational therapy, speech therapy
Medication
Prognosis Varies
Frequency Rare
Deaths


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[edit]

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[edit]

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[edit]

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[edit]

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[edit]

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[edit]


Genetic disorders relating to deficiencies of transcription factor or coregulators
(1) Basic domains
(2) Zinc finger
DNA-binding domains
(3) Helix-turn-helix domains
3.1
3.2
3.3
3.5
(4) β-Scaffold factors
with minor groove contacts
(0) Other transcription factors


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