Learn About Distal 18q Deletion Syndrome
Distal 18q deletion syndrome is a chromosomal condition that occurs when a piece of the long (q) arm of chromosome 18 is missing. The term "distal" means that the missing piece occurs near one end of the chromosome. Distal 18q deletion syndrome can lead to a wide variety of signs and symptoms among affected individuals.
Distal 18q deletion syndrome is caused by a deletion of genetic material from one copy of chromosome 18 anywhere between a region called 18q21 and the end of the chromosome. The size of the deletion and where it begins vary among affected individuals. The signs and symptoms of distal 18q deletion syndrome are thought to be related to the loss of multiple genes, some of which have not been identified, from this part of chromosome 18. Certain features of the disorder have been associated with the loss of particular genes in this region. People with deletions that include the TCF4 gene usually have signs and symptoms of another genetic condition known as Pitt-Hopkins syndrome, such as severe intellectual disability and breathing problems, in addition to other features of distal 18q deletion syndrome.
Deletions from the q arm of chromosome 18 occur in an estimated 1 in 55,000 newborns worldwide. Most of these deletions occur in the distal region of the q arm, leading to distal 18q deletion syndrome.
Distal 18q deletion syndrome is considered to be an autosomal dominant condition, which means one copy of the deleted region on chromosome 18 in each cell is sufficient to cause the disorder's characteristic features.
Proliance Surgeons Bellevue Ear, Nose & Throat And Sound Hearing
Jonathan Kopelovich, MD, is a board-certified otolaryngologist, who cares for problems that affect the head, neck, ear, nose and throat. He has additional board-certification and fellowship training in complex pediatric otolaryngology and has extensive experience in airway, craniofacial and ear surgery for children. Dr. Kopelovich believes in a collaborative and holistic approach to caring for every child.Raised on the gulf coast of Florida, Dr. Kopelovich pursued higher education in Philadelphia. He graduated cum laude from the University of Pennsylvania, then attended Jefferson Medical College and spent an additional year at the Children’s Hospital of Philadelphia devoted to cochlear implant research in children.Inspired by these experiences, Dr. Kopelovich completed otolaryngology residency and a neurobiology research fellowship at the University of Iowa, followed by a fellowship year in pediatric ENT at the Children’s Hospital of Colorado. While training, he focused on diseases affecting breathing, sleep, facial development and hearing. In addition to a stellar publication record, Dr. Kopelovich is passionate about decreasing the environmental impact of medicine. Since starting in practice with Bellevue Ear Nose and Throat, Dr. Kopelovich has organized and led multiple interdisciplinary provider groups in King County to help coordinate care for children with complicated head and neck issues. Additionally, he serves as the pediatric otolaryngology consultant for four neonatal ICUs.Dr. Kopelovich lives on Mercer Island with his wife, Rachel, a Seattle native and acupuncturist, and their three children. He enjoys hiking and skiing with his family in the Cascades and is an avid fan of all elements of hip hop culture. Dr. Kopelovich is rated as an Experienced provider by MediFind in the treatment of Distal 18q Deletion Syndrome. His top areas of expertise are Hearing Loss, Enlarged Adenoids, Stridor, and Low Nasal Bridge.
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Jay Shah is a Pediatric Otolaryngologist and an Otolaryngologist in Westlake, Ohio. Dr. Shah is rated as an Experienced provider by MediFind in the treatment of Distal 18q Deletion Syndrome. His top areas of expertise are Laryngomalacia, Subglottic Stenosis, Enlarged Adenoids, Stridor, and Adenoidectomy. Dr. Shah is currently accepting new patients.
Irina Trosman is a Pediatrics specialist and a Pulmonary Medicine provider in Chicago, Illinois. Dr. Trosman is rated as an Experienced provider by MediFind in the treatment of Distal 18q Deletion Syndrome. Her top areas of expertise are Obstructive Sleep Apnea, Sleepwalking (Somnambulism), Irregular Sleep-Wake Syndrome, and Narcolepsy.
Published Date: November 01, 2018
Published By: National Institutes of Health