17q12 microdeletion syndrome

Genetic disorder caused by a deletion on chromosome 17

17q12 microdeletion syndrome is a genetic disorder characterized by the deletion of a small segment of chromosome 17 at the q12 location. This deletion can lead to a variety of clinical features, including developmental delays, intellectual disabilities, and congenital abnormalities.

Genetics

The 17q12 microdeletion syndrome is caused by the deletion of a segment of DNA on the long arm (q arm) of chromosome 17. This deletion typically spans approximately 1.4 megabases and includes several genes, such as HNF1B and LHX1. The syndrome is often inherited in an autosomal dominant manner, meaning that a single copy of the deleted segment can cause the disorder.

High resolution image of human chromosome 17.

Clinical Features

Individuals with 17q12 microdeletion syndrome may present with a range of clinical features, which can vary widely in severity. Common features include:

• Developmental delay and intellectual disability
• Congenital abnormalities such as kidney malformations
• Diabetes mellitus
• Epilepsy
• Behavioral disorders

Diagnosis

Diagnosis of 17q12 microdeletion 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 on chromosome 17.

Management

Management of 17q12 microdeletion syndrome is symptomatic and supportive. It may involve a multidisciplinary approach, including:

• Developmental therapy
• Educational support
• Medical management of associated conditions such as diabetes or epilepsy

Related pages

• Chromosome 17
• Genetic disorder
• Autosomal dominant

Gallery

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  Diagram illustrating autosomal dominant inheritance.