© 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.
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
