1p36 Deletion Syndrome

  • Medical Author:
    Charles Patrick Davis, MD, PhD

    Dr. Charles "Pat" Davis, MD, PhD, is a board certified Emergency Medicine doctor who currently practices as a consultant and staff member for hospitals. He has a PhD in Microbiology (UT at Austin), and the MD (Univ. Texas Medical Branch, Galveston). He is a Clinical Professor (retired) in the Division of Emergency Medicine, UT Health Science Center at San Antonio, and has been the Chief of Emergency Medicine at UT Medical Branch and at UTHSCSA with over 250 publications.

  • Medical Editor: William C. Shiel Jr., MD, FACP, FACR
    William C. Shiel Jr., MD, FACP, FACR

    William C. Shiel Jr., MD, FACP, FACR

    Dr. Shiel received a Bachelor of Science degree with honors from the University of Notre Dame. There he was involved in research in radiation biology and received the Huisking Scholarship. After graduating from St. Louis University School of Medicine, he completed his Internal Medicine residency and Rheumatology fellowship at the University of California, Irvine. He is board-certified in Internal Medicine and Rheumatology.

Conclusion

Current research is focusing on collecting blood from families with a child who has been diagnosed with a chromosomal disorder including microdeletions in order to further develop a non-invasive prenatal screening test based on fetal DNA isolated from maternal blood.

Medically reviewed by Margaret Walsh, MD; American Board of Pediatrics

REFERENCES:

rarechromo.org. 1p36 Study Day Report.

The Ashlyn Horry Foundation. About Us.

U.S. National Library of Medicine, National Institutes of Health. 1p36 Deletion Syndrome.

Medically Reviewed by a Doctor on 9/23/2015

Subscribe to MedicineNet's Children's Health & Parenting Newsletter

By clicking Submit, I agree to the MedicineNet's Terms & Conditions & Privacy Policy and understand that I may opt out of MedicineNet's subscriptions at any time.

VIEW PATIENT COMMENTS
  • 1p36 Deletion Syndrome - Signs and Symptoms

    Please describe the signs and symptoms that led to a diagnosis of 1p36 deletion syndrome.

    Post View 1 Comment
  • 1p36 Deletion Syndrome - Treatment

    What type of treatment did your child receive for 1p36 deletion syndrome?

    Post

Health Solutions From Our Sponsors