Prenatal diagnosis, ultrasound findings, and pregnancy outcome of 17q12 deletion and duplication syndromes: a retrospective case series.

Autor: Luo X; The Genetics Laboratory, Longgang District Maternity and Child Healthcare Hospital of Shenzhen City (Longgang Maternity and Child Institute of Shantou University Medical College), Shenzhen, Guangdong, China., Chen X; The Genetics Laboratory, Longgang District Maternity and Child Healthcare Hospital of Shenzhen City (Longgang Maternity and Child Institute of Shantou University Medical College), Shenzhen, Guangdong, China., Cong X; The Genetics Laboratory, Longgang District Maternity and Child Healthcare Hospital of Shenzhen City (Longgang Maternity and Child Institute of Shantou University Medical College), Shenzhen, Guangdong, China., Niu H; The Genetics Laboratory, Longgang District Maternity and Child Healthcare Hospital of Shenzhen City (Longgang Maternity and Child Institute of Shantou University Medical College), Shenzhen, Guangdong, China., Zhou F; The Genetics Laboratory, Longgang District Maternity and Child Healthcare Hospital of Shenzhen City (Longgang Maternity and Child Institute of Shantou University Medical College), Shenzhen, Guangdong, China., Song J; The Genetics Laboratory, Longgang District Maternity and Child Healthcare Hospital of Shenzhen City (Longgang Maternity and Child Institute of Shantou University Medical College), Shenzhen, Guangdong, China., Hu L; The Genetics Laboratory, Longgang District Maternity and Child Healthcare Hospital of Shenzhen City (Longgang Maternity and Child Institute of Shantou University Medical College), Shenzhen, Guangdong, China., Pei Y; The Genetics Laboratory, Longgang District Maternity and Child Healthcare Hospital of Shenzhen City (Longgang Maternity and Child Institute of Shantou University Medical College), Shenzhen, Guangdong, China., Guo Y; Department of Community Center, Longgang District People's Hospital of Shenzhen City (The Second Affiliated Hospital of The Chinese University of Hong Kong, Shenzhen), Shenzhen, Guangdong, China. rogers886@163.com.

Publikováno v: Archives of gynecology and obstetrics [Arch Gynecol Obstet] 2024 Dec; Vol. 310 (6), pp. 2921-2930. Date of Electronic Publication: 2024 Oct 21.

Expanding the phenotype of neurofibromatosis type 1 microdeletion syndrome.

Autor: Garzon JP; Division of Genetics, Genomics, and Metabolism, Ann & Robert H. Lurie Children's Hospital of Chicago, Chicago, Illinois, USA.; Department of Pediatrics, Feinberg School of Medicine of Northwestern University, Chicago, Illinois, USA., Patete A; Division of Genetics, Genomics, and Metabolism, Ann & Robert H. Lurie Children's Hospital of Chicago, Chicago, Illinois, USA.; Department of Pediatrics, Feinberg School of Medicine of Northwestern University, Chicago, Illinois, USA., Aschbacher-Smith L; Division of Human Genetics, Cincinnati Children's Hospital Medical Center, Cincinnati, Ohio, USA.; Department of Pediatrics, University of Cincinnati College of Medicine, Cincinnati, Ohio, USA., Qu'd D; Alabama College of Osteopathic Medicine, Dothan, Alabama, USA., Kelly-Mancuso G; Division of Human Genetics, Cincinnati Children's Hospital Medical Center, Cincinnati, Ohio, USA.; Department of Pediatrics, University of Cincinnati College of Medicine, Cincinnati, Ohio, USA., Raski CR; Division of Genetics, Genomics, and Metabolism, Ann & Robert H. Lurie Children's Hospital of Chicago, Chicago, Illinois, USA.; Department of Pediatrics, Feinberg School of Medicine of Northwestern University, Chicago, Illinois, USA., Weisman AG; Division of Genetics, Genomics, and Metabolism, Ann & Robert H. Lurie Children's Hospital of Chicago, Chicago, Illinois, USA.; Department of Pediatrics, Feinberg School of Medicine of Northwestern University, Chicago, Illinois, USA., Hankins M; Division of Genetics, Genomics, and Metabolism, Ann & Robert H. Lurie Children's Hospital of Chicago, Chicago, Illinois, USA.; Department of Pediatrics, Feinberg School of Medicine of Northwestern University, Chicago, Illinois, USA., Sawin M; Division of Genetics, Genomics, and Metabolism, Ann & Robert H. Lurie Children's Hospital of Chicago, Chicago, Illinois, USA.; Department of Pediatrics, Feinberg School of Medicine of Northwestern University, Chicago, Illinois, USA., Kim K; Division of Genetics, Genomics, and Metabolism, Ann & Robert H. Lurie Children's Hospital of Chicago, Chicago, Illinois, USA.; Department of Pediatrics, Feinberg School of Medicine of Northwestern University, Chicago, Illinois, USA., Drackley A; Division of Genetics, Genomics, and Metabolism, Ann & Robert H. Lurie Children's Hospital of Chicago, Chicago, Illinois, USA.; Department of Pediatrics, Feinberg School of Medicine of Northwestern University, Chicago, Illinois, USA., Zeid J; Division of Ophthalmology, Ann & Robert H. Lurie Children's Hospital of Chicago, Chicago, Illinois, USA.; Department of Ophthalmology, Feinberg School of Medicine of Northwestern University, Chicago, Illinois, USA., Weaver KN; Division of Human Genetics, Cincinnati Children's Hospital Medical Center, Cincinnati, Ohio, USA.; Department of Pediatrics, University of Cincinnati College of Medicine, Cincinnati, Ohio, USA., Hopkin RJ; Division of Human Genetics, Cincinnati Children's Hospital Medical Center, Cincinnati, Ohio, USA.; Department of Pediatrics, University of Cincinnati College of Medicine, Cincinnati, Ohio, USA., Saal HM; Division of Human Genetics, Cincinnati Children's Hospital Medical Center, Cincinnati, Ohio, USA.; Department of Pediatrics, University of Cincinnati College of Medicine, Cincinnati, Ohio, USA., Charrow J; Division of Genetics, Genomics, and Metabolism, Ann & Robert H. Lurie Children's Hospital of Chicago, Chicago, Illinois, USA.; Department of Pediatrics, Feinberg School of Medicine of Northwestern University, Chicago, Illinois, USA., Schorry E; Division of Human Genetics, Cincinnati Children's Hospital Medical Center, Cincinnati, Ohio, USA.; Department of Pediatrics, University of Cincinnati College of Medicine, Cincinnati, Ohio, USA., Listernick R; Division of Genetics, Genomics, and Metabolism, Ann & Robert H. Lurie Children's Hospital of Chicago, Chicago, Illinois, USA.; Department of Pediatrics, Feinberg School of Medicine of Northwestern University, Chicago, Illinois, USA., Simpson BN; Division of Human Genetics, Cincinnati Children's Hospital Medical Center, Cincinnati, Ohio, USA.; Department of Pediatrics, University of Cincinnati College of Medicine, Cincinnati, Ohio, USA.; Department of Pediatrics, University of Tennessee Health Science Center, Memphis, Tennessee, USA.; Le Bonheur Children's Hospital, Memphis, Tennessee, USA.; St. Jude Children's Research Hospital, Memphis, Tennessee, USA., Prada CE; Division of Genetics, Genomics, and Metabolism, Ann & Robert H. Lurie Children's Hospital of Chicago, Chicago, Illinois, USA.; Department of Pediatrics, Feinberg School of Medicine of Northwestern University, Chicago, Illinois, USA.

Publikováno v: American journal of medical genetics. Part C, Seminars in medical genetics [Am J Med Genet C Semin Med Genet] 2024 Dec; Vol. 196 (4), pp. e32095. Date of Electronic Publication: 2024 Jul 18.

Reciprocal chromosome translocation t(3;4)(q27;q31.2) with deletion of 3q27 and reduced FBXW7 expression in a patient with developmental delay, hypotonia, and seizures.

Autor: Tamura T; Department of Pediatrics and Child Health, Nihon University School of Medicine, Tokyo, Japan.; Division of Gene Medicine, Graduate School of Medical Science, Tokyo Women's Medical University, Tokyo, Japan.; Department of Transfusion Medicine and Cell Processing, Tokyo Women's Medical University, Tokyo, Japan., Shimojima Yamamoto K; Department of Transfusion Medicine and Cell Processing, Tokyo Women's Medical University, Tokyo, Japan.; Institute of Medical Genetics, Tokyo Women's Medical University, Tokyo, Japan., Tohyama J; Department of Child Neurology, National Hospital Organization Nishiniigata Chuo Hospital, Niigata, Japan., Morioka I; Department of Pediatrics and Child Health, Nihon University School of Medicine, Tokyo, Japan., Kanno H; Department of Transfusion Medicine and Cell Processing, Tokyo Women's Medical University, Tokyo, Japan., Yamamoto T; Division of Gene Medicine, Graduate School of Medical Science, Tokyo Women's Medical University, Tokyo, Japan. yamamoto.toshiyuki@twmu.ac.jp.; Institute of Medical Genetics, Tokyo Women's Medical University, Tokyo, Japan. yamamoto.toshiyuki@twmu.ac.jp.

Publikováno v: Journal of human genetics [J Hum Genet] 2024 Dec; Vol. 69 (12), pp. 639-644. Date of Electronic Publication: 2024 Aug 09.

Investigating social orienting in children with Phelan-McDermid syndrome and 'idiopathic' autism.

Autor: San José Cáceres A; Department of Forensic and Neurodevelopmental Sciences, Institute of Psychiatry, Psychology & Neuroscience, King's College London, De Crespigny Park, London, UK.; Departamento de Psiquiatría del Niño y del Adolescente, Instituto de Investigación Sanitaria Gregorio Marañón, Hospital General Universitario Gregorio Marañón, Madrid, Spain.; Centro Investigación Biomédica en Red Salud Mental, CIBERSAM, Instituto Carlos III, Madrid, Spain., Wilkinson E; Seaver Autism Center for Research and Treatment, Department of Psychiatry, Icahn School of Medicine at Mount Sinai, New York, NY, USA.; Department of Psychology, University at Albany State University of New York, NY, USA., Cooke J; Department of Forensic and Neurodevelopmental Sciences, Institute of Psychiatry, Psychology & Neuroscience, King's College London, De Crespigny Park, London, UK., Baskett V; Seaver Autism Center for Research and Treatment, Department of Psychiatry, Icahn School of Medicine at Mount Sinai, New York, NY, USA., Blackmore C; Department of Forensic and Neurodevelopmental Sciences, Institute of Psychiatry, Psychology & Neuroscience, King's College London, De Crespigny Park, London, UK., Crawley DV; Department of Forensic and Neurodevelopmental Sciences, Institute of Psychiatry, Psychology & Neuroscience, King's College London, De Crespigny Park, London, UK.; Department of Clinical, Educational, and Health Psychology, University College London, London, UK., Durkin A; Seaver Autism Center for Research and Treatment, Department of Psychiatry, Icahn School of Medicine at Mount Sinai, New York, NY, USA., Halpern D; Seaver Autism Center for Research and Treatment, Department of Psychiatry, Icahn School of Medicine at Mount Sinai, New York, NY, USA., Núñez M; Department of Forensic and Neurodevelopmental Sciences, Institute of Psychiatry, Psychology & Neuroscience, King's College London, De Crespigny Park, London, UK.; Departamento de Psicología Básica, Universidad Autónoma de Madrid, Madrid, Spain., Siper P; Seaver Autism Center for Research and Treatment, Department of Psychiatry, Icahn School of Medicine at Mount Sinai, New York, NY, USA., Murphy DG; Department of Forensic and Neurodevelopmental Sciences, Institute of Psychiatry, Psychology & Neuroscience, King's College London, De Crespigny Park, London, UK.; Sackler Institute for Translational Neurodevelopment, Institute of Psychiatry, Psychology & Neuroscience, King's College London, De Crespigny Park, London, UK., Foss-Feig J; Seaver Autism Center for Research and Treatment, Department of Psychiatry, Icahn School of Medicine at Mount Sinai, New York, NY, USA.; Department of Pediatrics, Icahn School of Medicine at Mount Sinai, New York, NY, USA., Kolevzon A; Seaver Autism Center for Research and Treatment, Department of Psychiatry, Icahn School of Medicine at Mount Sinai, New York, NY, USA.; Department of Pediatrics, Icahn School of Medicine at Mount Sinai, New York, NY, USA., Loth E; Department of Forensic and Neurodevelopmental Sciences, Institute of Psychiatry, Psychology & Neuroscience, King's College London, De Crespigny Park, London, UK. eva.loth@kcl.ac.uk.; Sackler Institute for Translational Neurodevelopment, Institute of Psychiatry, Psychology & Neuroscience, King's College London, De Crespigny Park, London, UK. eva.loth@kcl.ac.uk.

Publikováno v: Journal of neurodevelopmental disorders [J Neurodev Disord] 2024 Nov 19; Vol. 16 (1), pp. 64. Date of Electronic Publication: 2024 Nov 19.

A familial chromosome 4p16.3 terminal microdeletion that does not cause Wolf-Hirschhorn (4p-) syndrome.

Autor: Osundiji MA; Department of Clinical Genomics, Mayo Clinic, 200 First Street SW, Rochester, MN, 55905, USA., Kahn E; Department of Clinical Genomics, Mayo Clinic, 200 First Street SW, Rochester, MN, 55905, USA., Lanpher B; Department of Clinical Genomics, Mayo Clinic, 200 First Street SW, Rochester, MN, 55905, USA. Lanpher.Brendan@mayo.edu.

Publikováno v: Chromosome research : an international journal on the molecular, supramolecular and evolutionary aspects of chromosome biology [Chromosome Res] 2024 Nov 07; Vol. 32 (4), pp. 13. Date of Electronic Publication: 2024 Nov 07.