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1q Duplication

Other Names for this Disorder

  • Partial trisomy 1q

  • Partial trisomy of the long arm of chromosome 1

  • Partial trisomy of chromosome 1q

  • Partial duplication of chromosome 1q

  • Partial duplication of the long arm of chromosome 1

Similar and Co- Occurring Disorders

Symptoms

  • Developmental Delay and Learning disabilities

  • Slow growth

  • Short stature

  • Cleft palate 

  • Heart defects

  • Small receding jaw

  • Fixed rigid or bent joints

  • Hydrocephalus

  • No development of speech

  • Feeding difficulties

  • Small mouth

  • Low set, backwards rotated ears

  • Kidney defecets

  • Eye or vision abnormalities 

  • Blockage or narrowing of part of the gastrointestinal tract

  • Large prominent forehead

Linked Genes

Duplication of any portion of the Chromosome 1

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This site is incomplete as I am working on adding more resources to it. If you need specific information,  Facebook message me and I will put it up as soon as I get time. 

Sincerely,

Dawn Kohler and the DMKbooks Staff.

 Disclaimer: this is simply a collection of resources. Dawn Kohler and dmkbooks do not guarantee results from any of these resources and recommend researching these resources further before you and your caregiver proceed. Dawn is not a doctor or a lawyer. 

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