Chromosome 1q21.1 Duplication Details

Expanded Description

Chromosome 1q21.1 Duplication is a rare genetic abnormality that involves microduplication in the q21.1 area of chromosome 1. It has varying clinical presentations with children having anything from mild to severe developmental delays. It has also been associated with congenital heart defects, and macrocephaly (abnormally large head).

Prevalence

No prevalence information has been added yet.

Causes

This condition is either caused by inheriting it from a parent who carries the genetic abnormality or de novo (the abnormality develops during conception).

Disorder Symptoms

No symptom information has been added yet.

We don't have any symptoms yet.

Diagnosis

No diagnosis information has been added yet.

Diagnostic Tests

No diagnostic test information has been added yet.

We don't have any tests yet.

Disorder Treatments

No treatment information has been added yet

We don't have any treatments yet.

Prognosis

Prognosis varies. Some individuals with this genetic abnormality are asymptomatic while others can suffer with varying severities of developmental delays, congenital heart defects, and abnormal head size. Some groups have also claimed it may be associated with a higher prevalence rate of mental retardation, Autism, and other mental health conditions.

Tips for Living with the Disorder

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