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17q12 deletion syndrome

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Alternate names

Chromosome 17q12 deletion syndrome; 17q12 microdeletion syndrome; Del(17)(q12); Monosomy 17q12; 17q12 recurrent deletion syndrome

Definition

17q12 deletion syndrome is a chromosome abnormality in which there is a small missing piece (deletion) of genetic material on the long arm (q) of chromosome 17.

Epidemiology

One study estimated that 17q12 deletion syndrome occurs in 1 in 14,500 people in Iceland.

Cause

  • Most people with 17q12 deletion syndrome are missing about 1.4 million DNA building blocks (base pairs), also written as 1.4 megabases (Mb), at position q12 on chromosome 17.
  • This deletion affects one of the two copies of chromosome 17 in each cell.
  • The chromosome segment most commonly deleted in people with 17q12 deletion syndrome contains 15 genes.
  • The loss of two genes in particular, HNF1B and LHX1, is thought to underlie some of the features of 17q12 deletion syndrome.

Inheritance

Autosomal dominant pattern, a 50/50 chance.
  • 17q12 deletion syndrome is inherited in an autosomal dominant manner; however, in most people with this syndrome, the deletion is not inherited from a parent and occurs sporadically.
  • Less commonly, a person with 17q12 deletion syndrome inherits the deletion from a parent.
  • Children of a person with the deletion have a 50% chance of inheriting the deletion.

Signs and symptoms

  • Signs and symptoms can vary widely among people with this syndrome.
  • More common signs and symptoms include abnormalities of the kidneys or urinary tract, a form of diabetes called maturity-onset diabetes of the young type 5 (MODY5), and mildly distinctive facial features.
  • Other signs and symptoms may include developmental delay, intellectual disability, and behavioral or psychiatric disorders.
  • Some people with 17q12 deletion syndrome have seizures, and/or abnormalities of the eyes, liver, brain, genitalia, or other body systems.

Clinical presentation

For most diseases, symptoms will vary from person to person. People with the same disease may not have all the symptoms listed. 80%-99% of people have these symptoms

  • Multicystic kidney dysplasia

30%-79% of people have these symptoms

5%-29% of people have these symptoms

  • Abnormality of upper lip
  • Autism

Diagnosis

The diagnosis is established in a proband by detection of the 1.4-megabase (Mb) heterozygous recurrent deletion at chromosome 17q12 by chromosomal microarray testing or other genomic methods.

Treatment

Treatment of kidney anomalies, neurodevelopmental and neuropsychiatric disorders, MODY5, genital tract abnormalities, liver abnormalities, eye abnormalities, congenital heart defects, seizures and sensorineural hearing loss should follow standard practice.

NIH genetic and rare disease info

17q12 deletion syndrome is a rare disease.


Latest research - 17q12 deletion syndrome

PubMed
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