Faces of Tetrasomy 18p
Photograph courtesy of Rick Guidotti of Postive Exposure.
Suggested Evaluations for Individuals with Tetrasomy 18p  Print  

Based on a thorough review of the medical literature as well as the findings and experiences of the Chromosome 18 Clinical Research Center, our team of scientists have compiled a list of recommended evaluations for an individual recently diagnosed with tetrasomy 18p.

  • Genetics evaluation and counseling
  • Parental chromosomes
  • Periodic opthalmology evaluations
  • Periodic audiology evaluations
  • ENT referral for management of chronic otitis media
  • Cardiology evaluation
  • Renal ultrasound
  • Orthopedic evaluation for management of foot abnormalities
  • Monitor for scoliosis and kyphosis
  • Neurology evaluation for seizures, abnormal muscle tone
  • Gastrointestinal/nutritional evaluation of failure to thrive, gastroesophageal reflux, constipation
  • Endocrinology evaluation for short stature, to include evaluation for growth hormone deficiency
  • Referral for developmental services and therapy

The information provided here is intended to be used in conjunction with conversations with your health care providers.  This information should not replace professional medical advice, diagnosis, or treatment.  If you have questions or concerns, you may find it helpful to talk with a clinical geneticist or genetic counselor.  You can locate a genetics provider at one of these sites:

GeneTests Clinic Directory

National Society of Genetic Counselors

Reference:

Sebold C, Roeder E, Zimmerman M, Soileau B, Heard P, Carter E, Schatz M, White WA, Perry B, Reinker K, O'Donnell L, Lancaster J, Li J, Hasi M, Hill A, Pankratz L, ,Hale DE, Cody JD (2010). Tetrasomy 18p: Report of the Molecular and Clinical Findings of 43 Individuals. Am J Med Genet Part A 152A: 2164-2172.



 

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