7p22.1 microduplication syndrome

What is 7p22.1 microduplication syndrome?

7p22.1 microduplication syndrome is a rare chromosomal anomaly syndrome, resulting from a partial interstitial microduplication of the short arm of chromosome 7, characterized by intellectual disability, psychomotor and speech delays, craniofacial dysmorphism (including macrocephaly, frontal bossing, hypertelorism, abnormally slanted palpebral fissures, anteverted nares, low-set ears, microretrognathia) and cryptorchidia. Cardiac (e.g., patent foramen ovale and atrial septal defect), as well as renal, skeletal and ocular abnormalities may also be associated.

Other condition names

  • Dup(7)(p22.1)
  • Trisomy 7p22.1

Inheritance type

Autosomal recessive


  • Worldwide: <1 in 1,000 000

Age of Onset

  • Infancy
  • Neonatal
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