Trisomy 9 mosaic syndrome: Sixteen additional patients with new and/or less commonly reported features, literature review, and suggested clinical guidelines.

Autor: Li M; Division of Genetics, Department of Pediatrics, Rush Medical College and Rush University Medical Center, Chicago, Illinois, USA., Glass J; Division of Human Genetics, Cincinnati Children's Hospital Medical Center, Cincinnati, Ohio, USA., Du X; Division of Human Genetics, Cincinnati Children's Hospital Medical Center, Cincinnati, Ohio, USA., Dubbs H; Division of Human Genetics, Department of Pediatrics, University of Pennsylvania Perelman School of Medicine and The Children's Hospital of Philadelphia, Philadelphia, Pennsylvania, USA., Harr MH; Division of Human Genetics, Department of Pediatrics, University of Pennsylvania Perelman School of Medicine and The Children's Hospital of Philadelphia, Philadelphia, Pennsylvania, USA., Falk M; Division of Human Genetics, Department of Pediatrics, University of Pennsylvania Perelman School of Medicine and The Children's Hospital of Philadelphia, Philadelphia, Pennsylvania, USA., Smolarek T; Division of Human Genetics, Cincinnati Children's Hospital Medical Center and Department of Pediatrics, University of Cincinnati College of Medicine, Cincinnati, Ohio, USA., Hopkin RJ; Division of Human Genetics, Cincinnati Children's Hospital Medical Center and Department of Pediatrics, University of Cincinnati College of Medicine, Cincinnati, Ohio, USA., Zackai E; Division of Human Genetics, Department of Pediatrics, University of Pennsylvania Perelman School of Medicine and The Children's Hospital of Philadelphia, Philadelphia, Pennsylvania, USA., Sheppard SE; Division of Human Genetics, Department of Pediatrics, University of Pennsylvania Perelman School of Medicine and The Children's Hospital of Philadelphia, Philadelphia, Pennsylvania, USA.
Jazyk: angličtina
Zdroj: American journal of medical genetics. Part A [Am J Med Genet A] 2021 Aug; Vol. 185 (8), pp. 2374-2383. Date of Electronic Publication: 2021 May 10.
DOI: 10.1002/ajmg.a.62251
Abstrakt: Trisomy 9 mosaic syndrome (T9M) is a rare condition characterized by multiorgan system involvement including craniofacial dysmorphisms, cardiac, genitourinary (GU), skeletal, and central nervous system (CNS) abnormalities. Although more than 100 cases have been reported in the literature, a comprehensive review has not been performed nor have clinical guidelines been established. Therefore, we describe the clinical features of 16 additional patients, review features of previously reported individuals, and suggest clinical guidelines. Our findings expand the clinical phenotype of T9M, including novel features of amblyopia, astigmatism, corectopia of pupil, posterior embryotoxon, and diaphragmatic eventration. Most patients had prenatal and perinatal issues, particularly from respiratory, growth, and feeding standpoints. Although small birth parameters were common, long-term growth trends varied widely. An association with advanced parental ages was also identified. The spectrum of growth and development was wide, ranging from nonverbal patients to those able to participate in educational programs with age-appropriate peers. The severity of clinical outcomes was unrelated to blood lymphocyte mosaicism levels. Microarray analysis had a higher diagnostic rate compared to standard karyotype analysis and should be utilized if this diagnosis is suspected. Future longitudinal studies will be key to monitor long-term outcomes of individuals with T9M and determine best practices for clinical management.
(© 2021 Wiley Periodicals LLC.)
Databáze: MEDLINE
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