These symptoms typically present before the age of 20 but the median age at onset is 31 years (range 3-81 years). Clinical presentation can vary significantly and can commonly include hyperreflexia, lower-limb dystonia, and cognitive decline. [gimjournal.org]

Summarized characteristics of patients with 17q12 duplication in the present study and published studies. [frontiersin.org]

Nevertheless, many individuals with this microduplication syndrome have very mild presentations with no major birth defects being observed. [dovemed.com]

[…] and hyperechogenic kidneys, and one presenting with diabetes. [mdpi.com]

The 5 patients with a duplication all presented with cognitive impairment except 1, who had nonsyndromic esophageal atresia, age-appropriate development, normal renal function and imaging, and no diabetes; information on renal status and diabetes in the [findzebra.com]

• Malnutrition

  Microduplication Syndrome may include: Severe emotional stress for parents and caregivers Some pregnancy complications may be observed Failure to thrive Delayed milestone achievement that may affect when a child rolls, sits, crawls, or walks Poor growth due to malnutrition [dovemed.com]

• Respiratory Distress

  Neonatal evaluation of our patient noted with hypotonia, feeding difficulties, slight LGA (>90%), respiratory distress requiring oxygen supplement and dysmorphic features including upturned nasal tip, ears with flat helices and crumpled lobules, folded [gimjournal.org]

• Auditory Hallucination

  It most commonly manifests as auditory hallucinations, paranoid or bizarre delusions, or disorganized speech and thinking, and it is accompanied by significant social or occupational dysfunction. [rarediseases.oscar.ncsu.edu]

• Delusion

  It most commonly manifests as auditory hallucinations, paranoid or bizarre delusions, or disorganized speech and thinking, and it is accompanied by significant social or occupational dysfunction. [rarediseases.oscar.ncsu.edu]

• Compulsive Disorder

  Neurodevelopmental: intellectual abilities ranging from typical to severe disability, speech delay, motor delay, behavioral concerns (aggression, compulsive disorders), autism spectrum disorder Seizures in up to 75% of individuals Microcephaly (small [chromo17q12.org]

• Bradykinesia

  Juvenile-onset Parkinson disease is symptomatically different in several aspects from classic late-onset Parkinson disease, although classic symptoms of PD, such as bradykinesia, rigidity, and tremor, are present. [gimjournal.org]

• Incontinence

  She had become incontinent of urine. Neurology was asked to evaluate for organic etiology for her decline. Psychiatric examination revealed both a verbal and nonverbal IQ less than 55 (<1st percentile). [n.neurology.org]

The new MRI findings may help in earlier recognition of this rare syndrome and may direct diagnostic workup of individuals with a mixture of psychiatric illness and mild neurologic findings. Disclosure: Dr. Carbunar has nothing to disclose. Dr. [n.neurology.org]

and in some cases, due to treatment also. [dovemed.com]

Other treatments may include behavioral therapies to manage behavioral differences such as autism. Other treatments that may be recommended for people with 17q12 duplication include antiepileptic drugs to treat seizures. [rareguru.com]

Management Treatment of manifestations: Those with developmental delays, cognitive disability, and/or behavioral problems should be evaluated by a neurodevelopmental pediatrician or clinical psychologist/psychiatrist. [typeset.io]

Treatment options may include physical, occupational, and speech therapies, as well as management by a psychiatrist or psychologist to assist with any behavioral challenges.[14510] For more information, visit GARD. [rarediseases.org]

Parents may or may not want information that could have implications on their children as adults (particularly if there is not present treatment). [gimjournal.org]

What is the Prognosis of Chromosome 17q12 Microduplication Syndrome? (Outcomes/Resolutions) The prognosis of Chromosome 17q12 Microduplication Syndrome is dependent upon the severity of the signs and symptoms and associated complications, if any. [dovemed.com]

Regular long-term follow-up is warranted to determine the prognosis and to monitor for evolving phenotype and to provide genetic counseling for additional concerns. [gimjournal.org]

Neurology was asked to evaluate for organic etiology for her decline. Psychiatric examination revealed both a verbal and nonverbal IQ less than 55 (<1st percentile). She complained of hyperesthesia of the soles of her feet. [n.neurology.org]

(Etiology) Chromosome 17q12 Microduplication Syndrome is caused by an extra copy of genetic material on the long arm (q) of chromosome 17. [dovemed.com]

Gene content and genotype-phenotype correlations have been discussed, with special regard to neuropsychiatric features, whose impact often requires etiologic analysis. 1. [mdpi.com]

Contents 1 Presentation 2 Causes 3 Diagnosis 4 Treatment 5 Epidemiology 6 Microduplication 7 See also 8 References 9 External links Presentation 17q12 microdeletions have a variable phenotype, ranging from few or no symptoms to severe disability. [scientiait.com]

[…] instance, the increased risk of diabetes requires strict monitoring for post-transplantation diabetes mellitus in kidney transplant patients, as does the risk of weight gain and diabetes from neuroleptic drugs in those with a mental health diagnosis.[4] Epidemiology [en.wikipedia.org]

The epidemiology of mental retardation: Challenges and opportunities in the new millennium. Ment. Retard. Dev. Disabil. Res. Rev. 2002, 8, 117–134. [mdpi.com]

How can Chromosome 17q12 Microduplication Syndrome be Prevented? Chromosome 17q12 Microduplication Syndrome may not be preventable since many of these genetic disorders are diagnosed at or following the birth of the child. [dovemed.com]