P301: Incidental finding of MECP2-related disorder in a male infant with chromosome 15q11.2 microdeletion (Burnside–Butler) syndrome

P301: Incidental finding of MECP2-related disorder in a male infant with chromosome 15q11.2 microdeletion (Burnside–Butler) syndrome

Bibliographic Details
Main Authors:	Zohra Shad, Prisca Mbonu, Kelly Pagidas
Format:	Article
Language:	English
Published:	Elsevier 2023-01-01
Series:	Genetics in Medicine Open
Online Access:	http://www.sciencedirect.com/science/article/pii/S2949774423003291

Similar Items

The 15q11.2 BP1-BP2 Microdeletion (<i>Burnside–Butler</i>) Syndrome: In Silico Analyses of the Four Coding Genes Reveal Functional Associations with Neurodevelopmental Disorders
by: Syed K. Rafi, et al.
Published: (2020-05-01)

Genomic, Clinical, and Behavioral Characterization of 15q11.2 BP1-BP2 Deletion (Burnside-Butler) Syndrome in Five Families
by: Isaac Baldwin, et al.
Published: (2021-02-01)

Chromosome 22q11.2 microdeletion in monozygotic twins with discordant phenotype and deletion size
by: Halder Ashutosh, et al.
Published: (2012-03-01)

Prenatal Diagnosis of Chromosome 16p11.2 Microdeletion
by: You Wang, et al.
Published: (2022-12-01)

Prenatal Screening and Diagnostic Considerations for 22q11.2 Microdeletions
by: Natalie Blagowidow, et al.
Published: (2023-01-01)

Consequences of 22q11.2 Microdeletion on the Genome, Individual and Population Levels
by: Małgorzata Karbarz
Published: (2020-08-01)

Prenatal diagnosis and genetic counseling of a paternally inherited chromosome 15q11.2 microdeletion in a Chinese family
by: Wenjuan Tang, et al.
Published: (2022-07-01)

Optometry in adults with microdeletion 22q11.2: The eye as a window to the brain
by: Emma N.M.M. von Scheibler, et al.
Published: (2023-12-01)

Histological Analysis of a Mouse Model of the 22q11.2 Microdeletion Syndrome
by: Hidenori Tabata, et al.
Published: (2023-04-01)

Prevalence of 22q11.2 microdeletion syndrome in Iranian patients with cleft palate
by: Narges Nouri, et al.
Published: (2016-01-01)

Prenatal diagnosis and molecular cytogenetic characterization of an inherited microdeletion of chromosome 16p11.2
by: Meihua Li, et al.
Published: (2022-07-01)

An Atypical 15q11.2 Microdeletion Not Involving SNORD116 Resulting in Prader–Willi Syndrome
by: Molly M. Crenshaw, et al.
Published: (2023-01-01)

Ileal Dysbiosis Is Associated with Increased Acoustic Startle in the 22q11.2 Microdeletion Mouse Model of Schizophrenia
by: Julianne Ching Yang, et al.
Published: (2023-08-01)

Contribution of mGluR5 to pathophysiology in a mouse model of human chromosome 16p11.2 microdeletion
by: Tian, Di, et al.
Published: (2016)

Subtelomeric deletions of chromosome 9q: a novel microdeletion syndrome.
by: Stewart, DR, et al.
Published: (2004)

FAMILIAL CASE OF CHROMOSOME 22q11.2 DELETION SYNDROME
by: I. A. Tuzankina, et al.
Published: (2017-01-01)

A rare mosaic 22q11.2 microdeletion identified in a Chinese family with recurrent fetal conotruncal defects
by: Weicheng Chen, et al.
Published: (2019-08-01)

Expanding Genotype/Phenotype Correlation in 2p11.2-p12 Microdeletion Syndrome
by: Alessandra Ferrario, et al.
Published: (2023-12-01)

MeCP2 interacts with chromosomal microRNAs in brain
by: Abdul Waheed Khan, et al.
Published: (2017-12-01)

THE RESTRICTED BURNSIDE PROBLEM
by: Vaughanlee, M
Published: (1985)

The Burnside bicategory of groupoids
by: Miller, Haynes
Published: (2021)

Diversity of Clinical and Molecular Characteristics in Korean Patients with 16p11.2 Microdeletion Syndrome
by: Ji Yoon Han, et al.
Published: (2023-12-01)

Human Chromosome 17q11.2-q22 Contains Typhoid Fever Susceptibility Genes
by: Nguyen, H, et al.
Published: (2008)

Late onset psychosis in a case of 15q11.2 BP1-BP2 microdeletion () syndrome: A case report and literature review
by: Soumitra Das, et al.
Published: (2024-01-01)

The 2-generator restricted burnside group of exponent 7
by: O'Brien, E, et al.
Published: (2002)

Screening for Microdeletions of the X-Chromosome in Non-Specific Mental Retardation [2]
by: Martínez, F, et al.
Published: (2004)

Effect of Physiotherapy on Balance and Gross Motor Skills in a Child With 16p11.2 Microdeletion
by: Vaida Kerulienė, et al.
Published: (2022-11-01)

An inferential study of the phenotype for the chromosome 15q24 microdeletion syndrome: a bootstrap analysis
by: Antonio Palazón-Bru, et al.
Published: (2016-02-01)

Analysis of Y Chromosome Microdeletion in Indonesian Males
by: Dwi Anita Suryandari, et al.
Published: (2010-10-01)

A Clinical and Molecular Description of a Rare Case of Chromosomal Abnormality (Partial Trisomy 14q11.2-q21.1 and Partial Monosomy 21q11.2-q21.3)
by: Grigory S. Vasilyev, et al.
Published: (2016-08-01)

Bounds in the restricted Burnside problem
by: Vaughan-Lee, M, et al.
Published: (1999)

The burnside problem and identities in groups /
by: 321180 Adian, S. I.
Published: (1979)

The t(X;18)(p11.2;q11.2) translocation found in human synovial sarcomas involves two distinct loci on the X chromosome.
by: Shipley, J, et al.
Published: (1994)

Identification of a yeast artificial chromosome (YAC) spanning the synovial sarcoma-specific t(X;18)(p11.2;q11.2) breakpoint.
by: de Leeuw, B, et al.
Published: (1993)

Influence of Parent-of-Origin on Intellectual Outcomes in the Chromosome 22q11.2 Deletion Syndrome
by: Daniel E. McGinn, et al.
Published: (2022-10-01)

P319: Expanding the phenotype of EIF3F-related neurodevelopmental disorder
by: Zohra Shad, et al.
Published: (2024-01-01)

ASPP2 deficiency causes features of 1q41q42 microdeletion syndrome
by: Zak, J, et al.
Published: (2016)

Modelling human microdeletion syndromes by chromosome engineering in mice
by: Shaw-Smith, C, et al.
Published: (2008)

UPPER-BOUNDS IN THE RESTRICTED BURNSIDE PROBLEM
by: Vaughanlee, M, et al.
Published: (1993)

Combinatorial Estimations on Burnside Type Problems
by: Anton Beletskiy, et al.
Published: (2024-02-01)