Cargando…

Schaaf-Yang Syndrome: A Real Challenge for Prenatal Diagnosis

Schaaf-Yang syndrome (SYS) is a rare neurodevelopmental disorder caused by pathogenic variants in the MAGEL2 gene. It is usually a postnatal diagnosis in infants with muscular hypotonia and feeding difficulties. There are no cases diagnosed antenatally. During pregnancy, the most common findings rep...

Descripción completa

Detalles Bibliográficos
Autores principales:	Nunes, Sara, Xavier, Marta, Lourenço, Cátia, Melo, Mónica, Godinho, Cristina
Formato:	Online Artículo Texto
Lenguaje:	English
Publicado:	Cureus 2021
Materias:	Genetics
Acceso en línea:	https://www.ncbi.nlm.nih.gov/pmc/articles/PMC8757634/ https://www.ncbi.nlm.nih.gov/pubmed/35047255 http://dx.doi.org/10.7759/cureus.20414

Ejemplares similares

The adult phenotype of Schaaf-Yang syndrome
por: Marbach, Felix, et al.
Publicado: (2020)

Diagnosis of Schaaf-Yang syndrome in Korean children with developmental delay and hypotonia
por: Ahn, Hyunji, et al.
Publicado: (2020)

Schaaf‐Yang syndrome overview: Report of 78 individuals
por: McCarthy, John, et al.
Publicado: (2018)

A Novel Mutation of MAGEL2 in a Patient with Schaaf-Yang Syndrome and Hypopituitarism
por: D. Hidalgo-Santos, Antonio, et al.
Publicado: (2018)

Report of two cases of Schaaf‐Yang syndrome: Same genotype and different phenotype
por: Rodriguez, Ana Maria, et al.
Publicado: (2023)

Preimplantation Genetic Testing (PGT) and Prenatal Diagnosis of Schaaf-Yang Syndrome: A Report of Three Families and a Research on Genotype–Phenotype Correlations
por: Xu, Naixin, et al.
Publicado: (2023)

mTOR and autophagy pathways are dysregulated in murine and human models of Schaaf-Yang syndrome
por: Crutcher, Emeline, et al.
Publicado: (2019)

Advancing in Schaaf-Yang syndrome pathophysiology: from bedside to subcellular analyses of truncated MAGEL2
por: Castilla-Vallmanya, Laura, et al.
Publicado: (2023)

Prader-Willi Syndrome and Schaaf-Yang Syndrome: Neurodevelopmental Diseases Intersecting at the MAGEL2 Gene
por: Fountain, Michael D., et al.
Publicado: (2016)

Schaaf-Yang syndrome shows a Prader-Willi syndrome-like phenotype during infancy
por: Negishi, Yutaka, et al.
Publicado: (2019)

Late-Onset Pyloric Stenosis and Intussusception With Final Diagnosis of Food Proteins’ Hypersensitivity in Schaaf-Yang Syndrome: A Case Report
por: Mari, Alessandra, et al.
Publicado: (2022)

The phenotypic spectrum of Schaaf-Yang syndrome – 18 new affected individuals from 14 families
por: Fountain, Michael D., et al.
Publicado: (2016)

Phenotypic spectrum and genetic analysis in the fatal cases of Schaaf-Yang syndrome: Two case reports and literature review
por: Chen, Xuefei, et al.
Publicado: (2020)

Oxytocin-based therapies for treatment of Prader-Willi and Schaaf-Yang syndromes: evidence, disappointments, and future research strategies
por: Althammer, Ferdinand, et al.
Publicado: (2022)

Magel2 truncation alters select behavioral and physiological outcomes in a rat model of Schaaf-Yang syndrome
por: Reznik, Derek L., et al.
Publicado: (2023)

The N-terminal domain of the Schaaf–Yang syndrome protein MAGEL2 likely has a role in RNA metabolism
por: Sanderson, Matthea R., et al.
Publicado: (2021)

Hormonal Imbalances in Prader–Willi and Schaaf–Yang Syndromes Imply the Evolution of Specific Regulation of Hypothalamic Neuroendocrine Function in Mammals
por: Hoyos Sanchez, Maria Camila, et al.
Publicado: (2023)

Longitudinal analysis of electroencephalography pattern changes in an infant with Schaaf‐Yang syndrome and a novel mutation in melanoma antigen L2 (MAGEL2)
por: Mizuno, Shinsuke, et al.
Publicado: (2022)

Early onset critically ill infants with Schaaf-Yang syndrome: a retrospective study from the China neonatal genomes project and literature review
por: Huang, Zhongwen, et al.
Publicado: (2023)

Potentials and challenges of chromosomal microarray analysis in prenatal diagnosis
por: Liu, Xijing, et al.
Publicado: (2022)

A De Novo Nonsense Mutation in MAGEL2 in a Patient Initially Diagnosed as Opitz-C: Similarities Between Schaaf-Yang and Opitz-C Syndromes
por: Urreizti, Roser, et al.
Publicado: (2017)

Missense NR2F1 variant in monozygotic twins affected with the Bosch–Boonstra–Schaaf optic atrophy syndrome
por: Mio, Catia, et al.
Publicado: (2020)

Clinical Utility of the Prenatal BACs-on-Beads™ Assay in Invasive Prenatal Diagnosis
por: Jiang, Yu, et al.
Publicado: (2022)

Case report: Prenatal diagnosis of Kagami–Ogata syndrome in a Chinese family
por: Hu, Junjie, et al.
Publicado: (2022)

Prenatal Diagnosis of Williams-Beuren Syndrome Based on Suspected Fetal Hypotonia in Early Pregnancy
por: Tsagkas, Nikolaos, et al.
Publicado: (2023)

Haplotype-Based Noninvasive Prenatal Diagnosis of 21 Families With Duchenne Muscular Dystrophy: Real-World Clinical Data in China
por: Kong, Lingrong, et al.
Publicado: (2021)

Mutation detection and prenatal diagnosis of XLHED pedigree
por: Lin, Yao, et al.
Publicado: (2017)

Case report and a brief review: Analysis and challenges of prenatal imaging phenotypes and genotypes in Joubert syndrome
por: Huang, Ling-Xi, et al.
Publicado: (2022)

Optical genome mapping in an atypical Pelizaeus-Merzbacher prenatal challenge
por: Rogac, Mihael, et al.
Publicado: (2023)

The symmetry of the Kepler problem, the inverse Ligon-Schaaf mapping and the Birkhoff conjecture
por: Ligon, Thomas Sumner
Publicado: (2018)

Follow-up in Patients With Non-invasive Prenatal Screening Failures: A Reflection on the Choice of Further Prenatal Diagnosis
por: Liu, Sha, et al.
Publicado: (2021)

Case Report: Prenatal diagnosis of fetal tetrasomy 9p initially identified by non-invasive prenatal testing
por: Yu, Jialing, et al.
Publicado: (2022)

Exosome-encapsulated ncRNAs: Emerging yin and yang of tumor hallmarks
por: Khan, Nazoora, et al.
Publicado: (2022)

Challenging diagnoses of tetraploidy/diploidy and trisomy 12: utility of first-tier prenatal testing methods
por: Iordanescu, Irina Ioana, et al.
Publicado: (2023)

Molecular Diagnosis and Prenatal Phenotype Analysis of Eight Fetuses With Ciliopathies
por: Liu, Yuefang, et al.
Publicado: (2021)

Prenatal diagnosis and outcomes in 320 fetuses with nasal bone anomalies
por: Li, Hui, et al.
Publicado: (2023)

Prenatal Diagnosis of Fetuses With Increased Nuchal Translucency by Genome Sequencing Analysis
por: Choy, Kwong Wai, et al.
Publicado: (2019)

Prenatal diagnosis of recurrent moderate skeletal dysplasias in lamin B receptors
por: Shen, Xueping, et al.
Publicado: (2023)

Utilization of multiple genetic methods for prenatal diagnosis of rare thalassemia variants
por: Jiang, Fan, et al.
Publicado: (2023)

Prenatal Diagnosis of 17p11.2 Copy Number Abnormalities Associated With Smith–Magenis and Potocki–Lupski Syndromes in Fetuses
por: Cai, Meiying, et al.
Publicado: (2021)

Cannot write session to /tmp/vufind_sessions/sess_7kl6os288i9ji5qknaj89btcbj