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What is Chromosome 11q duplication syndrome?

What is Chromosome 11q duplication syndrome?

  • Chromosome 11q duplication syndrome: A rare chromosomal disorder where there are three copies of the long arm (q) of chromosome 11 rather than the normal two resulting in various abnormalities. The type and severity of symptoms depend on the amount and location of genetic material duplicated.
  • Chromosome 11q duplication syndrome: Duplication of the long arm of chromosome 11 with delayed growth and mental development, craniofacial asymmetry, microcephaly, dysmorphic facies, strabismus, musculoskeletal abnormalities, imperforate anus, cryptorchidism, and congenital heart defects. Some patients exhibits symptoms of cri-du-chat or chromosome 5p deletion syndrome (a peculiar crying sound resembling that of a suffering kitten observed in infants with craniofacial abnormalities that include microcephaly, round facies, hypertelorism, upslanting palpebral fissures, epicanthus, large frontal sinus, and other anomalies). The phenotype is variable and is related to the size of duplication. Mental retardation ranges from moderate to severe.
    Source - Diseases Database

Chromosome 11q duplication syndrome: Introduction

Types of Chromosome 11q duplication syndrome:

Broader types of Chromosome 11q duplication syndrome:

What causes Chromosome 11q duplication syndrome?

Causes of Chromosome 11q duplication syndrome: see causes of Chromosome 11q duplication syndrome

What are the symptoms of Chromosome 11q duplication syndrome?

Symptoms of Chromosome 11q duplication syndrome: see symptoms of Chromosome 11q duplication syndrome

How is it treated?

Doctors and Medical Specialists for Chromosome 11q duplication syndrome: Medical Geneticist ; see also doctors and medical specialists for Chromosome 11q duplication syndrome.
Treatments for Chromosome 11q duplication syndrome: see treatments for Chromosome 11q duplication syndrome

Name and Aliases of Chromosome 11q duplication syndrome

Main name of condition: Chromosome 11q duplication syndrome

Other names or spellings for Chromosome 11q duplication syndrome:

11q+ syndrome, 11q duplication syndrome, chromosome 11q trisomy, dup (11q) syndrome, duplication 11q syndrome, partial trisomy 11q, trisomy 11q, Duplication 11q

Chromosome 11q duplication syndrome: Related Conditions

Research the causes of these diseases that are similar to, or related to, Chromosome 11q duplication syndrome:

 

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