Our Website http://www.imgen.bcm.tmc.edu/molgen/dup17p11.2/index.html Lorraine Potocki, M.D., F.A.C.M.G.

Associate Professor Department of Molecular and Human Genetics Baylor College of Medicine Texas Childrens Hospital 6621 Fannin CC1560 Houston, TX 77030 832-822-4292 lpotocki@bcm.tmc.edu James R. Lupski, M.D., Ph.D., F.A.A.P F.A.C.M.G. , Professor Department of Molecular and Human Genetics Department of Pediatrics Baylor College of Medicine One Baylor Plaza BCMA-604B Houston, TX 77030 713-798-3723 jlupski@bcm.tmc.edu Patti Furman, M.P C.G.C. .H., Genetic Counselor Department of Molecular and Human Genetics Baylor College of Medicine Texas Childrens Hospital Genetics Clinic 6621 Fannin CC1560 Houston, TX 77030 832-822-4281 pattif@bcm.edu Dianne X. Dang, B.S. Clinical Research Coordinator Department of Molecular and Human Genetics Baylor College of Medicine Texas Childrens Hospital 6621 Fannin CC1560 Houston, TX 77030 832-822-4283 800-364-5437, ext. 24283 diannen@bcm.tmc.edu

What is Potocki-Lupski Syndrome?

This brochure is funded by: The Academy of Distinguished Educators, Baylor College of Medicine Auxiliary to Texas Childrens Hospital
The photographs are generously provided by Rick Guidotti of Positive Exposure.

dup(17)(p11.2p11.2)

Duplication of chromosome 17p11.2also known as Potocki-Lupski Syndrome (PTLS), or dup 17p syndrome is a newly recognized condition which can cause a variety of health problems including low muscle tone, poor feeding, heart defects, developmental delay, speech and learning problems, and autism.

What is PTLS?

Clinical Features of PTLS:

Infantile Hypotonia Feeding Difficulties Developmental Delay Verbal Apraxia Autism Spectrum Disorder Hyperactivity Heart Defects Sleep Apnea

Current Healthcare Guidelines*:

These guidelines are intended to assist physicians and health care providers in determining the best management for individuals with PTLS and can never replace good clinical judgment and practice. Most of the studies below should be followed and re-assessed as the child grows and develops. Any abnormalities should be addressed and managed medically or surgically as indicated. Feeding evaluation; assessment for failure to thrive if applicable Developmental assessment Autism spectrum disorder assessment (ADI and ADOS) Speech and language assessment Ophthalmological examination Otolaryngological examination (ENT) Audiological examination Echocardiogram and evaluation of the aortic root Electrocardiogram Renal ultrasound Sleep study (to assess for sleep apnea)

Research involving PTLS:

In 2000, Drs. Potocki and Lupski established the molecular mechanism for duplication 17p11.2 and since that time have collaborated on investigations of PTLS. Presently, Dr. Potocki conducts the clinical research study at Texas Childrens Hospital, and Dr. Lupski is the Principal Investigator of the molecular research at Baylor College of Medicine. The purpose of the molecular research study is to determine the size and molecular mechanism for the formation of the duplication and to help us understand the function of the genes in the 17p11.2 region. The purpose of the clinical protocol at The General Clinical Research Center at Texas Childrens Hospital in Houston is to help determine the medical problems and developmental challenges faced by individuals with PTLS. Studies like these are very useful because they are carried out by a multidisciplinary group of professionals dedicated to finding the keys to the best medical care for children and adults with PTLS.

*Potocki L et al. 2007. Characterization of Potocki-Lupski syndrome (dup(17) (p11.2p11.2)) and delineation of a dosage-sensitive critical interval that can convey an autism phenotype. Am J Hum Genet 80(4):633-49.