trisomy 17p (T17p), Chromosome 17p trisomy, partial duplication 17p, partial trisomy 17p, chromosome 17p partial duplication

Overview

Trisomy 17p (T17p) is a rare chromosomal disorder involving an extra copy of partial genetic material from the short arm of chromosome 17. The type and severity of symptoms are determined by the amount and location of the duplicated genetic material.

Symptoms

This medical information about signs and symptoms has been gathered from various sources, may not be fully accurate, and may not be the full list of T17p. Furthermore, signs and symptoms may vary on an individual basis for each patient. Only your doctor can provide adequate diagnosis of any signs or symptoms and whether they are indeedT17p symptoms.

The list of signs and symptoms mentioned in various sources for Trisomy 17p includes the 44 symptoms listed below:

 

  • Small head
  • Underdeveloped midface
  • Small jaw
  • Frontal bossing
  • Dysplastic ears
  • Low set ears
  • Widely spaced eyes 
  • Closely spaced eyes 
  • Narrow space between eyelids 
  • Down slanting space between eyelids 
  • Drooping upper eyelid 
  • Small eyes 
  • Small pupils 
  • Broad nasal bridge 
  • Small mouth 
  • Open mouth 
  • Highly arched palate 
  • Short neck 
  • Webbed neck 
  • Widely spaced nipples 
  • Inguinal hernia 
  • Flexion anomaly of fingers 
  • Long fingers 
  • Tapered fingers 
  • Overriding toes 
  • Hammer toes 
  • Transverse palmar creases 
  • Flexion contractures of joints 
  • Kyphosis 
  • Scoliosis 
  • Excessive muscle tone 
  • Reduced muscle tone 
  • Excessive hair growth 
  • Hydrocephaly 
  • Congenital heart defects 
  • Kidney abnormalities 
  • Undescended testes 
  • Underdeveloped male genitalia 
  • Failure to thrive 
  • Growth retardation 
  • Motor retardation 
  • Mental retardation 
  • Wide gait 
  • Deafness