17q12 microdeletion syndrome

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17q12 microdeletion syndrome
Chromosome 17
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[edit | edit source]

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[edit | edit source]

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

Diagnosis[edit | edit source]

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[edit | edit source]

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

See also[edit | edit source]

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Contributors: Prab R. Tumpati, MD