1q21.1 deletion syndrome: Difference between revisions

Revision as of 06:39, 16 February 2025

A genetic disorder caused by a deletion on chromosome 1

1q21.1 Deletion Syndrome

1q21.1 deletion syndrome is a rare genetic disorder caused by a deletion of a small segment of chromosome 1. This deletion occurs at the q21.1 region, which is located on the long arm of the chromosome. The syndrome is associated with a variety of clinical features, which can vary widely among affected individuals.

Genetic Basis

The 1q21.1 deletion involves the loss of a segment of DNA that contains several genes. The size of the deletion can vary, but it typically spans approximately 1.35 megabases. This region includes several important genes, such as GJA5, CHD1L, and BCL9. The deletion can occur de novo or be inherited from a parent who carries the deletion but may not show any symptoms.

Clinical Features

Individuals with 1q21.1 deletion syndrome may exhibit a range of symptoms, including:

The severity of these symptoms can vary significantly, even among members of the same family.

Diagnosis

Diagnosis of 1q21.1 deletion syndrome is typically made using genetic testing methods such as chromosomal microarray analysis or fluorescence in situ hybridization (FISH). These tests can identify the presence of the deletion and help in understanding the genetic basis of the individual's symptoms.

Management

There is no cure for 1q21.1 deletion syndrome, and treatment is focused on managing the symptoms. This may include:

Speech therapy and occupational therapy for developmental delays
Special education services
Medications to control seizures
Surgical interventions for congenital heart defects

Related Pages

@@ Line 1: / Line 1: @@
-= 1q21.1 Deletion Syndrome =
+{{Short description|A genetic disorder caused by a deletion on chromosome 1}}
+{{Medical genetics}}
-[[File:Relation_1q21_1.jpg|thumb|Diagram showing the location of the 1q21.1 region on chromosome 1.]]
+== 1q21.1 Deletion Syndrome ==
+[[File:Relation_1q21_1.jpg|thumb|right|Diagram showing the location of the 1q21.1 region on chromosome 1]]
-'''1q21.1 Deletion Syndrome''' is a rare genetic disorder caused by a deletion of a small segment of chromosome 1 at the q21.1 location. This deletion can lead to a variety of developmental and health issues, which can vary widely among affected individuals.
+'''1q21.1 deletion syndrome''' is a rare [[genetic disorder]] caused by a deletion of a small segment of [[chromosome 1]]. This deletion occurs at the q21.1 region, which is located on the long arm of the chromosome. The syndrome is associated with a variety of clinical features, which can vary widely among affected individuals.
 == Genetic Basis ==
-The 1q21.1 deletion involves the loss of a segment of DNA on the long arm (q) of chromosome 1. This region contains several genes, and the deletion can disrupt the function of these genes, leading to the symptoms associated with the syndrome. The size of the deletion can vary, and this variability can influence the severity of the symptoms.
+The 1q21.1 deletion involves the loss of a segment of DNA that contains several [[genes]]. The size of the deletion can vary, but it typically spans approximately 1.35 megabases. This region includes several important genes, such as [[GJA5]], [[CHD1L]], and [[BCL9]]. The deletion can occur de novo or be inherited from a parent who carries the deletion but may not show any symptoms.
-== Symptoms ==
+== Clinical Features ==
-Individuals with 1q21.1 deletion syndrome may exhibit a range of symptoms, including:
+Individuals with 1q21.1 deletion syndrome may exhibit a range of [[symptoms]], including:
-* Developmental delays
-* Intellectual disability
-* Autism spectrum disorders
-* Congenital heart defects
-* Microcephaly (small head size)
-* Distinctive facial features
-The severity and combination of symptoms can differ significantly from one person to another.
+* [[Developmental delay]]
+* [[Intellectual disability]]
+* [[Autism spectrum disorder]]
+* [[Congenital heart defects]]
+* [[Microcephaly]]
+* [[Seizures]]
+The severity of these symptoms can vary significantly, even among members of the same family.
 == Diagnosis ==
-Diagnosis of 1q21.1 deletion syndrome is typically made through genetic testing, such as [[chromosomal microarray analysis]] or [[fluorescence in situ hybridization]] (FISH). These tests can identify the presence of the deletion and help in understanding its potential impact.
+Diagnosis of 1q21.1 deletion syndrome is typically made using [[genetic testing]] methods such as [[chromosomal microarray analysis]] or [[fluorescence in situ hybridization]] (FISH). These tests can identify the presence of the deletion and help in understanding the genetic basis of the individual's symptoms.
 == Management ==
-There is no cure for 1q21.1 deletion syndrome, and treatment focuses on managing the symptoms and providing supportive care. This may include:
+There is no cure for 1q21.1 deletion syndrome, and treatment is focused on managing the symptoms. This may include:
-* Early intervention programs for developmental delays
-* Special education services
-* Speech and occupational therapy
-* Medical management of heart defects and other health issues
-== Related Conditions ==
+* [[Speech therapy]] and [[occupational therapy]] for developmental delays
-q21.1 deletion syndrome is part of a group of disorders known as [[chromosomal microdeletion syndromes]]. Other related conditions include:
+* [[Special education]] services
-* [[1q21.1 duplication syndrome]]
+* [[Medications]] to control seizures
-* [[22q11.2 deletion syndrome]]
+* [[Surgical interventions]] for congenital heart defects
-* [[Williams syndrome]]
-== Research ==
-Ongoing research aims to better understand the genetic and phenotypic variability of 1q21.1 deletion syndrome. Studies are focused on identifying the specific genes involved and how their loss contributes to the symptoms observed in affected individuals.
 == Related Pages ==
 * [[Chromosome 1]]
 * [[Genetic disorder]]
-* [[Microdeletion syndrome]]
+* [[Chromosomal microarray]]
-* [[Genetic testing]]
+* [[Autism spectrum disorder]]
 [[Category:Genetic disorders]]
-[[Category:Rare diseases]]
+[[Category:Chromosomal abnormalities]]
-[[Category:Chromosomal disorders]]
-<gallery>
-File:Relation_1q21_1.jpg|Diagram showing the location of the 1q21.1 region on chromosome 1.
-</gallery>