Chromosome 1- trisomy 1q42 qter


A rare chromosomal disorder where duplication of a portion of chromosome 1 causes various abnormalities such as clubfoot, poor muscle tone, neurological dysfunction, short stature, mental retardation and narrowing of the pulmonary arteries and valves.

Symptoms Hide

  • Anteverted nostrils
  • Dorsiflexed great toe
  • Narrowed pulmonary artery
  • Pyloric narrowing
  • Short stature
  • Clubfoot
  • Upslanted fissures
  • Ear cartilage deficiency
  • Underdeveloped antihelix
  • Large fontanelle
  • Low-set ears
  • Enlarged head
  • Mental retardation
  • Narrow forehead
  • Prominent ears
  • Capillary hemangioma
  • Buildup of fluid inside skull
  • Wide set eyes
  • Bat ears
  • Bulging eyes
  • Narrowed pulmonary valve
  • Short nose
  • Small nose
  • Poorly muscled build

Causes Hide

Prevention Hide

Diagnosis Hide

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