Algorithm for the diagnosis of patients with neurodevelopmental disorders and suspicion of a genetic syndrome.
Algoritmo para el diagnóstico de pacientes con trastornos del neurodesarrollo y sospecha de un síndrome genético.
FISH
clinical pathways.
microdeletion/ microduplication syndrome
neurodevelopmental disorders
Journal
Archivos argentinos de pediatria
ISSN: 1668-3501
Titre abrégé: Arch Argent Pediatr
Pays: Argentina
ID NLM: 0372460
Informations de publication
Date de publication:
Feb 2020
Feb 2020
Historique:
received:
11
01
2019
accepted:
02
08
2019
entrez:
28
1
2020
pubmed:
28
1
2020
medline:
28
1
2020
Statut:
ppublish
Résumé
The wide range of chromosome aberrations seen in neurodevelopmental disorders may not always be characterized by means of a chromosome analysis. The objective of this study was to determine the genetic etiology of these disorders in patients with congenital neurological conditions and clinical suspicion of a genetic disorder using a clinical and molecular testing algorithm. Among 111 studied children, 71 showed submicroscopic chromosome aberrations associated with microdeletion/microduplication syndromes: DiGeorge (22 cases), Prader-Willi (26 cases), Angelman (2 cases), WilliamsBeuren (17 cases), Smith-Magenis (1 case), Miller-Dieker (1 case), and El amplio espectro de aberraciones cromosómicas observable en los trastornos del neurodesarrollo no siempre puede ser caracterizado por análisis cromosómico. El objetivo del trabajo fue determinar la etiología genética de estos trastornos en pacientes con afecciones neurológicas congénitas y sospecha clínica de un síndrome genético, aplicando un algoritmo de estudio clínico-molecular. En 71 de 111 niños analizados, se hallaron aberraciones submicroscópicas asociadas a síndromes de microdeleción-microduplicación: DiGeorge (22 casos), Prader-Willi (26 casos), Angelman (2 casos), Williams-Beuren (17 casos), Smith-Magenis (1 caso), Miller-Dieker (1 caso) y síndrome
Autres résumés
Type: Publisher
(spa)
El amplio espectro de aberraciones cromosómicas observable en los trastornos del neurodesarrollo no siempre puede ser caracterizado por análisis cromosómico. El objetivo del trabajo fue determinar la etiología genética de estos trastornos en pacientes con afecciones neurológicas congénitas y sospecha clínica de un síndrome genético, aplicando un algoritmo de estudio clínico-molecular. En 71 de 111 niños analizados, se hallaron aberraciones submicroscópicas asociadas a síndromes de microdeleción-microduplicación: DiGeorge (22 casos), Prader-Willi (26 casos), Angelman (2 casos), Williams-Beuren (17 casos), Smith-Magenis (1 caso), Miller-Dieker (1 caso) y síndrome
Identifiants
pubmed: 31984699
doi: 10.5546/aap.2020.eng.52
doi:
Types de publication
Journal Article
Langues
eng
spa
Sous-ensembles de citation
IM
Pagination
52-55Informations de copyright
Sociedad Argentina de Pediatría.
Déclaration de conflit d'intérêts
The authors report no conflicts of interest in this work.
Références
Battaglia A, Bianchini E, Carey JC. Diagnostic yield of the comprehensive assessment of developmental delay/mental retardation in an institute of child neuropsychiatry. Am J Med Genet. 1999; 82(1):60-6.
Suresh P, Ayyappan A, Nandini J, Ismail T. Cognitive deficits and behavioral disorders in children: A comprehensive multidisciplinary approach to management. Ann Behav Sci. 2015; 1(1):6.
Patel DR, Merrick J. Neurodevelopmental disabilities: Introduction and epidemiology. In Patel R, Greydanus D, Omar H, Merrick J. Neurodevelopmental Disabilities. New York: Springer; 2011.Págs.1-13.
Shevell M, Ashwal S, Donley D, Flint J, et al. Practice parameter: evaluation of the child with global developmental delay: report of the Quality Standards Subcommittee of the American Academy of Neurology and The Practice Committee of the Child Neurology Society. Neurology. 2003; 60(3):367-80.
Johnston TD, Edwards L. Genes, interactions and the development of behavior. Psychol Rev. 2002; 109(1):26-34.
Barch MJ. AGT Cytogenetics Laboratory Manual. 2nd ed. New York: Raven Press; 1991.
Mendez-Rosado LA, Lantigua A, Galarza J, Al-Rikabi ABH, et al. Unusual de novo partial trisomy 17p12p11.2 due to unbalanced insertion into 5p13.1 in a severely affected boy. J Pediatr Genet. 2017; 6(3):165-8.
Cancrini C, Puliafito P, Digilio MC, Soresina A, et al. Clinical features and follow-up in patients with 22q11.2 deletion syndrome. J Pediatr. 2014; 164(6):1475-80.
Poirsier C, Besseau-Ayasse J, Schluth-Bolard C, Toutain J, et al. A French multicenter study of over 700 patients with 22q11 deletions diagnosed using FISH or aCGH. Eur J Med Genet. 2016; 24(6):844-51.
Verhagen J, Diderich K, Oudesluijs G, Mancini G, et at. Phenotypic variability of atypical 22q11.2 deletions not including TBX1. Am J Med Genet A. 2012; 158A(10):2412-20.
Fernández L, Nevado J, Santos F, Heine-Suner D, et al. A deletion and a duplication in distal 22q11.2 deletion syndrome region. Clinical implications and review. BMC Med Genet. 2009; 10:48.
Hosoki K, Kagami M, Tanaka T, Kubota M, et al. Maternal uniparental disomy 14 syndrome demonstrates Prader-Willi syndrome-like phenotype. J Pediatr. 2009; 155(6) :900-3.e1.
Niyazov DM, Nawaz Z, Justice AN, Toriello HV, et al. Genotype/phenotype correlations in two patients with 12q subtelomere deletions. Am J Med Genet A. 2007; 143A(22):2700-5.
Ben-Abdallah-Bouhjar I, Hannachi H, Labalme A, Gmidene A, et al. Chromosomal microarray analysis of functional Xq27-qter disomy and deletion 3p26.3 in a boy with Prader-Willi like features and hypotonia. Eur J Med Genet. 2012; 55(8-9):461-5.
Calounova G, Hedvicakova P, Silhanova E, Kreckova G, et al. Molecular and clinical characterization of two patients with Prader-Willi syndrome and atypical deletions of proximal chromosome 15q. Am J Med Genet A. 2008; 146A(15):1955-62.