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What is Chromosome 2p duplication syndrome?

What is Chromosome 2p duplication syndrome?

  • Chromosome 2p duplication syndrome: A rare chromosomal disorder where a portion of the short arm (p) of chromosome 2 is duplicated so there is three copies of it rather than the normal two.
  • Chromosome 2p duplication syndrome: Duplication of the short arm of chromosome 2 with psychomotor retardation, characteristic facies (prominent forehead, frontal upsweep of hair, hypertelorism, micrognathia, and nose and ear malformations), narrow palate, dolichostenomelia, finger and toe abnormalities, and genital anomalies. Less frequently occurring abnormalities include neural tube defects anencephaly, encephalocele, and spina bifida), bronchial and pulmonary hypoplasia, diaphragmatic hernia, neuroblastoma, a genital anomalies, and congenital heart defects.
    Source - Diseases Database

Chromosome 2p duplication syndrome: Introduction

Types of Chromosome 2p duplication syndrome:

Broader types of Chromosome 2p duplication syndrome:

How serious is Chromosome 2p duplication syndrome?

Prognosis of Chromosome 2p duplication syndrome: The prognosis varies somewhat depending on the type and severity of symptoms that develop. Prompt diagnosis and appropriate treatment can improve prognosis and quality of life. However, the overall prognosis is generally poor with death usually occurring within the first few years of life. Patients tend to have severe mental retardation.

What causes Chromosome 2p duplication syndrome?

Causes of Chromosome 2p duplication syndrome: see causes of Chromosome 2p duplication syndrome

What are the symptoms of Chromosome 2p duplication syndrome?

Symptoms of Chromosome 2p duplication syndrome: see symptoms of Chromosome 2p duplication syndrome

How is it treated?

Doctors and Medical Specialists for Chromosome 2p duplication syndrome: Medical Geneticist ; see also doctors and medical specialists for Chromosome 2p duplication syndrome.
Treatments for Chromosome 2p duplication syndrome: see treatments for Chromosome 2p duplication syndrome

Name and Aliases of Chromosome 2p duplication syndrome

Main name of condition: Chromosome 2p duplication syndrome

Other names or spellings for Chromosome 2p duplication syndrome:

2p+ syndrome, 2p duplication syndrome, chromosome 2p trisomy, dup (2p) syndrome, partial trisomy 2p, trisomy 2p

Chromosome 2p duplication syndrome: Related Conditions

Research the causes of these diseases that are similar to, or related to, Chromosome 2p duplication syndrome:

 

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