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Can I read Deep Phenotyping in 3Q29 Deletion Syndrome: Recommendations for Clinical Care on EtoBox?
Deep Phenotyping in 3Q29 Deletion Syndrome: Recommendations for Clinical Care by Rossana Sanchez Russo; Michael J. Gambello; Melissa M. Murphy; Katrina Aberizk; Emily Black; T. Lindsey Burrell; Grace Carlock; Joseph F. Cubells; Michael T. Epstein; Roberto Espana; Katrina Goines; Ryan M. Guest; Cheryl Klaiman; Sookyong Koh; Elizabeth J. Leslie; Longchuan Li; Derek M. Novacek; Celine A. Saulnier; Esra Sefik; Sarah Shultz; Elaine Walker; Stormi Pulver White; Hallie Averbach; Gary J. Bassell; Shanthi Cambala; Tamara Caspary; David Cutler; Paul A. Dawson; Michael P. Epstein; Henry R. Johnston; Bryan Mak; Tamika Malone; Trenell Mosley; Ava Papetti; Rebecca M. Pollak; Ryan Purcell; Nikisha Sisodoya; Steven Sloan; Stephen T. Warren; David Weinshenker; Zhexing Wen; Mike Zwick; Jennifer Gladys Mulle is a Biochemistry, Genetics and Molecular Biology article available to read on EtoBox.
What is Deep Phenotyping in 3Q29 Deletion Syndrome: Recommendations for Clinical Care about?
## Purpose To understand the consequences of the 3q29 deletion on medical, neurodevelopmental, psychiatric, brain structural, and neurological sequalae by systematic evaluation of affected individuals. To develop evidence-based recommendations using these data for effective clinical care. ## Methods Thirty-two individuals with the 3q29 deletion were evaluated using a defined phenotyping protocol and standardized data collection instruments. ## Results Medical manifestations were varied and reported across nearly every organ system. The most severe manifestations were congenital heart defects (25%) and the most common were gastrointestinal symptoms (81%). Physical examination revealed a high proportion of musculoskeletal findings (81%). Neurodevelopmental phenotypes represent a significant burden and include intellectual disability (34%), autism spectrum disorder (38%), executive function deficits (46%), and graphomotor weakness (78%). Psychiatric illness manifests across the lifespan with psychosis prodrome (15%), psychosis (20%), anxiety disorders (40%), and attention deficit–hyperactivity disorder (ADHD) (63%). Neuroimaging revealed structural anomalies of the posterior fossa, bu
Who reads Deep Phenotyping in 3Q29 Deletion Syndrome: Recommendations for Clinical Care?
It is typically read by researchers, students, and practitioners in Biochemistry, Genetics and Molecular Biology.
- Author
- Rossana Sanchez Russo; Michael J. Gambello; Melissa M. Murphy; Katrina Aberizk; Emily Black; T. Lindsey Burrell; Grace Carlock; Joseph F. Cubells; Michael T. Epstein; Roberto Espana; Katrina Goines; Ryan M. Guest; Cheryl Klaiman; Sookyong Koh; Elizabeth J. Leslie; Longchuan Li; Derek M. Novacek; Celine A. Saulnier; Esra Sefik; Sarah Shultz; Elaine Walker; Stormi Pulver White; Hallie Averbach; Gary J. Bassell; Shanthi Cambala; Tamara Caspary; David Cutler; Paul A. Dawson; Michael P. Epstein; Henry R. Johnston; Bryan Mak; Tamika Malone; Trenell Mosley; Ava Papetti; Rebecca M. Pollak; Ryan Purcell; Nikisha Sisodoya; Steven Sloan; Stephen T. Warren; David Weinshenker; Zhexing Wen; Mike Zwick; Jennifer Gladys Mulle
- Publisher
- Nature Publishing Group US
- Published
- 2021
- Language
- EN
- Field
- Biochemistry, Genetics and Molecular Biology (Life Sciences)