17q12 microdeletion syndrome

Editor-In-Chief: Prab R Tumpati, MD
Obesity, Sleep & Internal medicine
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17q12 microdeletion syndrome
Chromosome 17
Synonyms	17q12 deletion syndrome
Pronounce
Specialty	Medical genetics
Symptoms	Developmental delay, intellectual disability, kidney abnormalities, diabetes mellitus
Complications	N/A
Onset
Duration
Types
Causes	Genetic mutation
Risks
Diagnosis	Genetic testing
Differential diagnosis
Prevention
Treatment	Supportive care
Medication
Prognosis
Frequency	Rare
Deaths

Genetic disorder caused by a deletion on chromosome 17

Autosomal dominant inheritance pattern

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.

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

See also

• Chromosome 17
• Genetic disorder
• Autosomal dominant