Cargando…

A male infant with Xq22.2q22.3 duplication containing PLP1 and MID2

BACKGROUND: The Xq22.2 q23 is a complex genomic region which includes the genes MID2 and PLP1 associated with FG syndrome 5 and Pelizaeus–Merzbacher disease, respectively. There is limited information regarding the clinical outcomes observed in patients with deletions within this region. METHODS: We...

Descripción completa

Detalles Bibliográficos
Autores principales:	Chanchani, Swati R., Xie, Hongyan, Sekhon, Gurbax, Melikishvili, Ana M., Moyer Harasink, Sue, Pall, Harpreet, Giampietro, Philip F.
Formato:	Online Artículo Texto
Lenguaje:	English
Publicado:	John Wiley and Sons Inc. 2020
Materias:	Original Articles
Acceso en línea:	https://www.ncbi.nlm.nih.gov/pmc/articles/PMC7057127/ https://www.ncbi.nlm.nih.gov/pubmed/31951325 http://dx.doi.org/10.1002/mgg3.1078

Ejemplares similares

Insertion of an extra copy of Xq22.2 into 1p36 results in functional duplication of the PLP1 gene in a girl with classical Pelizaeus-Merzbacher disease
por: Masliah-Planchon, Julien, et al.
Publicado: (2015)

Distal Xq duplication and functional Xq disomy
por: Sanlaville, Damien, et al.
Publicado: (2009)

Loss of heterozygosity on chromosome XP22.2-p22.13 and Xq26.1-q27.1 in human breast carcinomas.
por: Choi, C., et al.
Publicado: (1998)

Lack of evidence of ERVWE1/Xq22.3 involvement in MRSV transcripts detected in Multiple Sclerosis patients
por: Romano, Camila M, et al.
Publicado: (2011)

8q22.2q22.3 Microdeletion Syndrome Associated with Hearing Loss and Intractable Epilepsy
por: Rincon, Alejandra, et al.
Publicado: (2019)

Familial 5.29 Mb deletion in chromosome Xq22.1–q22.3 with a normal phenotype: a rare pedigree and literature review
por: Xu, Hui-Hui, et al.
Publicado: (2023)

An N-terminally truncated envelope protein encoded by a human endogenous retrovirus W locus on chromosome Xq22.3
por: Roebke, Christina, et al.
Publicado: (2010)

Case Report: Contiguous Xq22.3 Deletion Associated with ATS-ID Syndrome: From Genotype to Further Delineation of the Phenotype
por: Smetana, Jan, et al.
Publicado: (2021)

The int22h1/int22h2-Mediated Xq28 Duplication Syndrome: An Intersection between Neurodevelopment, Immunology, and Cancer
por: Ballout, Rami A., et al.
Publicado: (2021)

Clinical characterization of int22h1/int22h2-mediated Xq28 duplication/deletion: new cases and literature review
por: El-Hattab, Ayman W, et al.
Publicado: (2015)

A microdeletion at Xq22.2 implicates a glycine receptor GLRA4 involved in intellectual disability, behavioral problems and craniofacial anomalies
por: Labonne, Jonathan D. J., et al.
Publicado: (2016)

A De Novo 8q22.2q22.3 Interstitial Microdeletion in a Girl with Developmental Delay and Congenital Defects
por: Kalinauskiene, Ruta, et al.
Publicado: (2023)

Monosomy chromosome 21 compensated by 21q22.11q22.3 duplication in a case with small size and minor anomalies
por: Su, Meng, et al.
Publicado: (2018)

Childhood-onset schizophrenia case with 2.2 Mb deletion at chromosome 3p12.2–p12.1 and two large chromosomal abnormalities at 16q22.3–q24.3 and Xq23–q28
por: Rudd, Danielle, et al.
Publicado: (2015)

xi(2.22): an L = 3 s$\overline{s}$ meson?
por: Godfrey, S, et al.
Publicado: (1984)

(22E,24R)-5α-Ergosta-2,22-dien-6-one
por: Sheng, Liu-qing, et al.
Publicado: (2011)

Identification of Xq22.1-23 as a region linked with hereditary recurrent spontaneous abortion in a family
por: Shekouhi, Sahar, et al.
Publicado: (2013)

A novel case of 16q22.3 duplication syndrome in a child with overgrowth: case report and literature review
por: Moschella, Antonino, et al.
Publicado: (2023)

SHOX Duplication and Tall Stature in a Patient with Xq Deletion and Vascular Disease
por: Ramirez, J. M., et al.
Publicado: (2019)

7p22.2 Microduplication: A Pathogenic CNV?
por: Bauleo, Alessia, et al.
Publicado: (2023)

A rare de novo duplication of chromosome 21q22.12 → q22.3 with other concomitant deletion and duplication of small fragments in 21q associated with Down syndrome: Prenatal diagnosis, molecular cytogenetic characterization
por: Qi, Qingwei, et al.
Publicado: (2013)

T-Cell Lymphopenia Detected by Newborn Screening in Two Siblings with an Xq13.1 Duplication
por: Rios, Xavier, et al.
Publicado: (2017)

A prenatal case of partial trisomy 21 (q22.2q22.3), resulting from a paternal insertion translocation ins(16;21) and uncovered by QF‐PCR, and characterized by array CGH and FISH
por: Bhola, Shama L., et al.
Publicado: (2018)

A Turner syndrome neurocognitive phenotype maps to Xp22.3
por: Zinn, Andrew R, et al.
Publicado: (2007)

Deletion 21q22.3 and duplication 7q35q36.3 in a Colombian girl: a case report
por: Ruiz-Botero, Felipe, et al.
Publicado: (2016)

A sibship with duplication of Xq28 inherited from the mother; genomic characterization and clinical outcomes
por: Yon, Dong Keon, et al.
Publicado: (2017)

New susceptibility locus for obesity and dyslipidaemia on chromosome 3q22.3
por: Alshahid, Maie, et al.
Publicado: (2013)

Detection of Chromosome X;18 Breakpoints and Translocation of the Xq22.3;18q23 Regions Resulting in Variable Fertility Phenotypes
por: Szvetko, Attila, et al.
Publicado: (2012)

A 47,X,+t(X;X)(p22.3;p22.3)del(X)(p11.23q11.2),Y Klinefelter Variant with Morbid Obesity
por: Kim, Youngsook, et al.
Publicado: (2013)

Birth of a boy with isolated short stature after prenatal diagnosis of a Xp22.3 nullosomy due to an inherited t(X;15) (p22.3;p10) translocation
por: Blondeel, E, et al.
Publicado: (2014)

Xq28 duplications including MECP2 in five females: Expanding the phenotype to severe mental retardation
por: Bijlsma, E.K., et al.
Publicado: (2012)

Two new reported cases of 16q22.3q23.3 duplication syndrome highlight intrafamilial variability and potential sex expression differences within a rare duplication syndrome
por: Gunther, Kathryn, et al.
Publicado: (2021)

Amplification and overexpression of the ID4 gene at 6p22.3 in bladder cancer
por: Wu, Qiong, et al.
Publicado: (2005)

Acquired del(9)(p22.3) in a primary plasma cell leukemia
por: Achkar, Walid Al, et al.
Publicado: (2013)

Prenatally detected six duplications at Xp22.33-p11.22: a case report
por: Zhang, Xue, et al.
Publicado: (2023)

Recurring Amplification at 11q22.1-q22.2 Locus Plays an Important Role in Lymph Node Metastasis and Radioresistance in OSCC
por: Bhosale, Priyanka G., et al.
Publicado: (2017)

Novel association of severe neonatal encephalopathy and Hirschsprung disease in a male with a duplication at the Xq28 region
por: Fernández, Raquel M, et al.
Publicado: (2010)

17p11.2 and Xq28 duplication detected in a girl diagnosed with Potocki–Lupski syndrome
por: Sumathipala, Dulika S., et al.
Publicado: (2015)

NSDHL-containing duplication at Xq28 in a male patient with autism spectrum disorder: a case report
por: Hu, Chun-Chun, et al.
Publicado: (2018)

Recurrent Microdeletions at Xq27.3-Xq28 and Male Infertility: A Study in the Czech Population
por: Chylíková, Blanka, et al.
Publicado: (2016)

Cannot write session to /tmp/vufind_sessions/sess_gg211un1klmb7jfl5sg1j1db63