Cargando…

Prenatal diagnosis and genetic counseling of a paternally inherited chromosome 15q11.2 microdeletion in a Chinese family

BACKGROUND: Proximal region of chromosome 15 long arm is rich in duplicons that, define five breakpoints (BP) for 15q rearrangements. 15q11.2 microdeletion has been previously associated with developmental delay, mental retardation, epilepsy, autism, schizophrenia and congenital heart defects. The l...

Descripción completa

Detalles Bibliográficos
Autores principales:	Tang, Wenjuan, Chen, Guowei, Xia, Jingshu, Zhang, Ying
Formato:	Online Artículo Texto
Lenguaje:	English
Publicado:	BioMed Central 2022
Materias:	Research
Acceso en línea:	https://www.ncbi.nlm.nih.gov/pmc/articles/PMC9251932/ https://www.ncbi.nlm.nih.gov/pubmed/35787815 http://dx.doi.org/10.1186/s13039-022-00605-1

Ejemplares similares

Prenatal diagnosis and genetic counseling of a paternally inherited microduplication 18q11.1 to 18q11.2 in a chinese family
por: Chen, Juan, et al.
Publicado: (2022)

Prenatal diagnosis and molecular cytogenetic characterization of an inherited microdeletion of chromosome 16p11.2
por: Li, Meihua, et al.
Publicado: (2022)

Prenatal Diagnosis of Chromosome 16p11.2 Microdeletion
por: Wang, You, et al.
Publicado: (2022)

Prenatal Screening and Diagnostic Considerations for 22q11.2 Microdeletions
por: Blagowidow, Natalie, et al.
Publicado: (2023)

Prader–Willi-Like Phenotype Caused by an Atypical 15q11.2 Microdeletion
por: Tan, Qiming, et al.
Publicado: (2020)

Nine de novo duplications affecting both maternal and paternal chromosomes and an inherited 15q11.2 deletion, in a patient with developmental delay
por: Tayeh, Marwan K, et al.
Publicado: (2015)

Chromosome 22q11.2 microdeletion in monozygotic twins with discordant phenotype and deletion size
por: Halder, Ashutosh, et al.
Publicado: (2012)

Prenatal Diagnosis of Microdeletions or Microduplications in the Proximal, Central, and Distal Regions of Chromosome 22q11.2: Ultrasound Findings and Pregnancy Outcome
por: Li, Shuyuan, et al.
Publicado: (2019)

The 15q11.2 BP1–BP2 Microdeletion Syndrome: A Review
por: Cox, Devin M., et al.
Publicado: (2015)

Age‐Related Parkinsonian Signs in Microdeletion 22q11.2
por: Boot, Erik, et al.
Publicado: (2020)

Congenital Arthrogryposis: An Extension of the 15q11.2 BP1-BP2 Microdeletion Syndrome?
por: Usrey, K. M., et al.
Publicado: (2014)

A Rare Case of 15q11.2 Microdeletion Syndrome with Atypical Features: Diagnostic Dilemma
por: Chowdhury, Waliul, et al.
Publicado: (2018)

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

Chromosome 15q24 microdeletion syndrome
por: Magoulas, Pilar L, et al.
Publicado: (2012)

A 15q11.2 microdeletion first identified in a pair of autistic monozygotic twins with regression
por: Zhang, Ying, et al.
Publicado: (2015)

Neuroanatomical Phenotypes in a Mouse Model of the 22q11.2 Microdeletion
por: Ellegood, J., et al.
Publicado: (2013)

Failure to thrive as presentation in a patient with 22q11.2 microdeletion
por: Bossi, Grazia, et al.
Publicado: (2016)

Consequences of 22q11.2 Microdeletion on the Genome, Individual and Population Levels
por: Karbarz, Małgorzata
Publicado: (2020)

22q11.2 microdeletion and increased risk for type 2 diabetes
por: Van, Lily, et al.
Publicado: (2020)

Genotypic and phenotypic variability of 22q11.2 microdeletions – an institutional experience
por: Manno, Gabrielle C., et al.
Publicado: (2021)

Expanding the BP1-BP2 15q11.2 Microdeletion Phenotype: Tracheoesophageal Fistula and Congenital Cataracts
por: Wong, D., et al.
Publicado: (2013)

Parent-of-Origin Effects in 15q11.2 BP1-BP2 Microdeletion (Burnside-Butler) Syndrome
por: Davis, Kyle W., et al.
Publicado: (2019)

Prevalence of 22q11.2 microdeletion syndrome in Iranian patients with cleft palate
por: Nouri, Narges, et al.
Publicado: (2016)

Typical features of Parkinson disease and diagnostic challenges with microdeletion 22q11.2
por: Boot, Erik, et al.
Publicado: (2018)

Histological Analysis of a Mouse Model of the 22q11.2 Microdeletion Syndrome
por: Tabata, Hidenori, et al.
Publicado: (2023)

Prenatal diagnosis and genetic counseling of an inherited unbalanced chromosome abnormalities in a Chinese family
por: Zhang, Ying, et al.
Publicado: (2022)

Noninvasive prenatal testing detects microdeletion abnormalities of fetal chromosome 15
por: Yin, Lianli, et al.
Publicado: (2019)

Prenatal diagnosis of a de novo 15q11.2 microdeletion in a maternal inv(4)(p15q31) fetus with increased nuchal translucency: A case report and literature review
por: Sun, Meiling, et al.
Publicado: (2020)

Mosaic 22q11.2 microdeletion syndrome: diagnosis and clinical manifestations of two cases
por: Halder, Ashutosh, et al.
Publicado: (2008)

Frequency of 22q11.2 microdeletion in children with congenital heart defects in western poland
por: Wozniak, Anna, et al.
Publicado: (2010)

Behavioral abnormalities are common and severe in patients with distal 22q11.2 microdeletions and microduplications
por: Lindgren, Valerie, et al.
Publicado: (2015)

SNP Microarray in FISH Negative Clinically Suspected 22q11.2 Microdeletion Syndrome
por: Halder, Ashutosh, et al.
Publicado: (2016)

Neuroanatomical underpinnings of autism symptomatology in carriers and non-carriers of the 22q11.2 microdeletion
por: Gudbrandsen, Maria, et al.
Publicado: (2020)

Magnesium Supplement and the 15q11.2 BP1–BP2 Microdeletion (Burnside–Butler) Syndrome: A Potential Treatment?
por: Butler, Merlin G.
Publicado: (2019)

A rare mosaic 22q11.2 microdeletion identified in a Chinese family with recurrent fetal conotruncal defects
por: Chen, Weicheng, et al.
Publicado: (2019)

Maternal versus paternal inheritance of a 132 bp 11p15.5 microdeletion affecting KCNQ1OT1 and associated phenotypes
por: Stoltze, Ulrik Kristoffer, et al.
Publicado: (2023)

Search for copy number variants in chromosomes 15q11-q13 and 22q11.2 in obsessive compulsive disorder
por: Delorme, Richard, et al.
Publicado: (2010)

The Identification of Microdeletion and Reciprocal Microduplication in 22q11.2 Using High-Resolution CMA Technology
por: Leite, Ana Julia Cunha, et al.
Publicado: (2016)

Assessing the Cognitive Translational Potential of a Mouse Model of the 22q11.2 Microdeletion Syndrome
por: Nilsson, Simon RO., et al.
Publicado: (2016)

The smallest de novo 20q11.2 microdeletion causing intellectual disability and dysmorphic features
por: Hanafusa, Hiroaki, et al.
Publicado: (2017)

Cannot write session to /tmp/vufind_sessions/sess_b43fshop3f9kfve61tdpjv7n47