Cargando…

Alström syndrome caused by maternal uniparental disomy

PURPOSE: To describe a case of Alström syndrome arising from maternal uniparental disomy. OBSERVATIONS: A 13-month-old boy with poor vision and nystagmus was diagnosed with Alström syndrome based on genetic testing that identified a homozygous pathogenic variant, ALMS1 c.2141_2141del (p.Ser714Tyrfs*...

Descripción completa

Detalles Bibliográficos
Autores principales:	Lopour, Madeline Q.R., Schimmenti, Lisa A., Boczek, Nicole J., Kearney, Hutton M., Drack, Arlene V., Brodsky, Michael C.
Formato:	Online Artículo Texto
Lenguaje:	English
Publicado:	Elsevier 2022
Materias:	Case Report
Acceso en línea:	https://www.ncbi.nlm.nih.gov/pmc/articles/PMC9829691/ https://www.ncbi.nlm.nih.gov/pubmed/36636630 http://dx.doi.org/10.1016/j.ajoc.2022.101745

Ejemplares similares

Mandibuloacral Dysplasia Caused by LMNA Mutations and Uniparental Disomy
por: Bai, Shaochun, et al.
Publicado: (2014)

Uniparental disomy as a cause of pediatric endocrine disorders
por: Matsubara, Keiko, et al.
Publicado: (2018)

Cytogenetic contribution to uniparental disomy (UPD)
por: Liehr, Thomas
Publicado: (2010)

Differentially methylated regions in maternal and paternal uniparental disomy for chromosome 7
por: Hannula-Jouppi, Katariina, et al.
Publicado: (2014)

Difficult tracheal intubation in a patient with maternal uniparental disomy 14
por: Furutani, Kenta, et al.
Publicado: (2016)

Identification of AFG3L2 dominant optic atrophy following reanalysis of clinical exome sequencing
por: Brodsky, Michael C., et al.
Publicado: (2023)

Maternal uniparental disomy of chromosome 7 underlying argininosuccinic aciduria and Silver-Russell syndrome
por: Hattori, Atsushi, et al.
Publicado: (2022)

Somatic uniparental disomy of Chromosome 16p in hemimegalencephaly
por: Griffin, Nicole G., et al.
Publicado: (2017)

Untimely expression of gametogenic genes in vegetative cells causes uniparental disomy
por: Folco, H. Diego, et al.
Publicado: (2017)

Uniparental disomy is a chromosomic disorder in the first place
por: Liehr, Thomas
Publicado: (2022)

First Genetic Screening for Maternal Uniparental Disomy of Chromosome 7 in Turkish Silver-Russell Syndrome Patients
por: Karaca, Emin, et al.
Publicado: (2012)

PMM2‐CDG caused by uniparental disomy: Case report and literature review
por: Vaes, Laurien, et al.
Publicado: (2020)

Molecular Mechanisms Leading to the Phenotypic Development in Paternal and Maternal Uniparental Disomy for Chromosome 14
por: Ogata, Tsutomu, et al.
Publicado: (2008)

American College of Medical Genetics Statement on Diagnostic Testing for Uniparental Disomy
por: Shaffer, Lisa G., et al.
Publicado: (2001)

Phenotypic spectrum in uniparental disomy: Low incidence or lack of study?
por: Bhatt, Arpan D., et al.
Publicado: (2013)

Prognostic relevance of acquired uniparental disomy in serous ovarian cancer
por: Tuna, Musaffe, et al.
Publicado: (2015)

Uniparental disomy and prenatal phenotype: Two case reports and review
por: Li, Xiaofei, et al.
Publicado: (2017)

Uniparental Disomy Leading to a Rare Juvenile Form of ALS
por: Karasozen, Yigit, et al.
Publicado: (2020)

The non-random landscape of somatically-acquired uniparental disomy in cancer
por: Erola, Pau, et al.
Publicado: (2019)

Uniparental disomy: expanding the clinical and molecular phenotypes of whole chromosomes
por: Chen, Qi, et al.
Publicado: (2023)

Maternal Uniparental Disomy 14 (UPD14) Identified by Clinical Exome Sequencing in an Adolescent with Diverticulosis
por: Chan, Alvin P., et al.
Publicado: (2019)

Segmental maternal uniparental disomy of chromosome 7q in a patient with congenital chloride diarrhea
por: Lyu, Juanjuan, et al.
Publicado: (2021)

Case Report: Novel Mutation of F5 With Maternal Uniparental Disomy Causes Severe Congenital Factor V Deficiency
por: Cheng, Lin, et al.
Publicado: (2022)

Accurate detection of clinically relevant uniparental disomy from exome sequencing data
por: Yauy, Kevin, et al.
Publicado: (2019)

Paternal Uniparental Disomy of the Entire Chromosome 20 in a Child with Beckwith-Wiedemann Syndrome
por: Choufani, Sanaa, et al.
Publicado: (2021)

Examinations of maternal uniparental disomy and epimutations for chromosomes 6, 14, 16 and 20 in Silver-Russell syndrome-like phenotypes
por: Sachwitz, Jana, et al.
Publicado: (2016)

First maternal uniparental disomy for chromosome 2 with PREPL novel frameshift mutation of congenital myasthenic syndrome 22 in an infant
por: Zhang, Ping, et al.
Publicado: (2020)

Uniparental disomy - clinical consequences due to imprinting and activation of recessive genes
por: Liehr, Thomas
Publicado: (2014)

Quantitative analysis of somatically acquired and constitutive uniparental disomy in gastrointestinal cancers
por: Torabi, Keyvan, et al.
Publicado: (2018)

Segmental uniparental disomy of chromosome 4 in a patient with methylmalonic acidemia
por: Chen, Min, et al.
Publicado: (2019)

Uniparental disomy in a population of 32,067 clinical exome trios
por: Scuffins, Julie, et al.
Publicado: (2021)

Large heterozygous deletion and uniparental disomy masquerading as homozygosity in CHKB gene
por: Wu, Tenghui, et al.
Publicado: (2023)

Accurate Detection of Uniparental Disomy and Microdeletions by SNP Array Analysis in Myelodysplastic Syndromes with Normal Cytogenetics
por: Heinrichs, Stefan, et al.
Publicado: (2009)

Maternal uniparental disomy 14 and mosaic trisomy 14 in a Chinese boy with moderate to severe intellectual disability
por: Zhang, Shujie, et al.
Publicado: (2016)

Mosaic partial pericentromeric trisomy 8 and maternal uniparental disomy in a male patient with autism spectrum disorder
por: Ahram, Dina F., et al.
Publicado: (2016)

The maternal uniparental disomy of chromosome 6 (upd(6)mat) “phenotype”: result of placental trisomy 6 mosaicism?
por: Eggermann, Thomas, et al.
Publicado: (2017)

A case of hyperphosphatemic familial tumoral calcinosis due to maternal uniparental disomy of a GALNT3 variant
por: Nishimura-Kinoshita, Naoko, et al.
Publicado: (2023)

Chromosome-wide identification of novel imprinted genes using microarrays and uniparental disomies
por: Schulz, Reiner, et al.
Publicado: (2006)

Soft tissue sarcoma subtypes exhibit distinct patterns of acquired uniparental disomy
por: Tuna, Musaffe, et al.
Publicado: (2012)

Genome-wide uniparental disomy screen in human discarded morphologically abnormal embryos
por: Xu, Jiawei, et al.
Publicado: (2015)

Cannot write session to /tmp/vufind_sessions/sess_6ba58817inuic3oef3dfte05ur