© 2017, GENASSIST, Inc.     

By Keith S. Wexler, MBA, Maternal Fetal Medicine, Prenatal Diagnosis and Biotech/Life Sciences Consultant, GENASSIST, Inc.

Paul Wexler, M.D., F.A.C.O.G., Medical Director, GENASSIST, Inc.

Clinical Professor, Department of OB/GYN, University of Colorado Health Sciences Center

Clinical Professor, Division of Genetics/Dept. of Pediatrics, Univ. of Colorado/The Children’s Hospital

Phelan-McDermid Syndrome (Deletion of chromosome 22q13):

Deletion (loss) of a portion of the long arm of one chromosome #22 (q13) or the loss from the intermediate portion of the long arm of chromosome #22 to the end of chromosome #22.

http://22q13.org/j15/

Phelan-McDermid Syndrome can be inherited from a carrier “unaffected” parent or can be new to that individual (de novo) and result in child with some or all of the following:

  • Developmental delay
  • Normal or accelerated growth
  • Decreased tone
  • Decreased perspiration with a tendency to overheat
  • Autistic-like behavior
  • Eye or kidney problems
  • Seizures