Cargando…

Deletion of 20p13 and Duplication of 20p13p12.3 in a Patient with Delayed Speech and Development

Detalles Bibliográficos
Autores principales:	Kwon, Soon Sung, Kim, Jieun, Shin, Saeam, Lee, Seung-Tae, Lee, Kyung-A, Choi, Jong Rak
Formato:	Online Artículo Texto
Lenguaje:	English
Publicado:	The Korean Society for Laboratory Medicine 2018
Materias:	Letter to the Editor
Acceso en línea:	https://www.ncbi.nlm.nih.gov/pmc/articles/PMC5700154/ https://www.ncbi.nlm.nih.gov/pubmed/29071826 http://dx.doi.org/10.3343/alm.2018.38.1.77

Ejemplares similares

t(12;17)(p13;q12)/TAF15-ZNF384 Rearrangement in Acute Lymphoblastic Leukemia
por: Kim, Jieun, et al.
Publicado: (2016)

Isolated 9p Duplication With der(Y)t(Y;9)(q12;p13.2) in a Male Patient With Cardiac Defect and Mental Retardation Confirmed by Chromosomal Microarray
por: Oh, Moonhee, et al.
Publicado: (2016)

Duplication of Chromosome 16p13.11-p12.3 with Different Expressions in the Same Family
por: Pop-Jordanova, N, et al.
Publicado: (2021)

20p12.3 deletion is rare cause of syndromic cleft palate: case report and review of literature
por: Amasdl, Saadia, et al.
Publicado: (2016)

Prenatal Diagnosis of 17p13.1p13.3 Duplication
por: Kiiski, Kirsi, et al.
Publicado: (2012)

A new case of de novo 19p13.2p13.12 deletion in a girl with overgrowth and severe developmental delay
por: Natiq, Abdelhafid, et al.
Publicado: (2014)

A 12p13 GRIN2B deletion is associated with developmental delay and macrocephaly
por: Morisada, Naoya, et al.
Publicado: (2016)

5p13.3p13.2 duplication associated with developmental delay, congenital malformations and chromosome instability manifested as low-level aneuploidy
por: Iourov, Ivan Y., et al.
Publicado: (2015)

Frequency, prognostic impact, and subtype association of 8p12, 8q24, 11q13, 12p13, 17q12, and 20q13 amplifications in breast cancers
por: Letessier, Anne, et al.
Publicado: (2006)

Expanding the Spectrum of Rearrangements Involving Chromosome 19: A Mild Phenotype Associated with a 19p13.12–p13.13 Deletion
por: Marangi, Giuseppe, et al.
Publicado: (2012)

Recurrent reciprocal deletions and duplications of 16p13.11: the deletion is a risk factor for MR/MCA while the duplication may be a rare benign variant
por: Hannes, F D, et al.
Publicado: (2009)

Neuropathology of 16p13.11 Deletion in Epilepsy
por: Liu, Joan Y. W., et al.
Publicado: (2012)

Co-occurrence of 16p13.11 microdeletion and ring chromosome 20 syndrome
por: Rodan, Lance H., et al.
Publicado: (2016)

Potential linkage of different phenotypic forms of childhood strabismus to a recessive susceptibility locus (16p13.12-p12.3)
por: Khan, Arif O., et al.
Publicado: (2011)

Laparoscopic Hysterectomy and Bilateral Salpingectomy in a Patient with Microduplication Syndrome (20p13p12.1) and a Bicornuate Uterus: An Unreported Association
por: Pachajoa, Harry, et al.
Publicado: (2020)

Congenital hyperinsulinism and Poland syndrome in association with 10p13–14 duplication
por: Giri, Dinesh, et al.
Publicado: (2017)

Chronic Myeloid Leukemia With Rare Variant b2a3 (e13a3) BCR-ABL1 Fusion
por: Ha, Jihye, et al.
Publicado: (2016)

SNPs Array Karyotyping Reveals a Novel Recurrent 20p13 Amplification in Primary Myelofibrosis
por: Visani, Giuseppe, et al.
Publicado: (2011)

A duplication at chromosome 11q12.2–11q12.3 is associated with spinocerebellar ataxia type 20
por: Knight, Melanie A., et al.
Publicado: (2008)

Hyperinsulinemic Hypoglycemia and Growth Hormone Deficiency Secondary to 20p11 Deletion
por: Wee, Erica, et al.
Publicado: (2023)

Genome-wide association and linkage identify modifier loci of lung disease severity in cystic fibrosis at 11p13 and 20q13.2
por: Wright, Fred A., et al.
Publicado: (2011)

7p21.3 Together With a 12p13.32 Deletion in a Patient With Microcephaly—Does 12p13.32 Locus Possibly Comprises a Candidate Gene Region for Microcephaly?
por: Rincic, Martina, et al.
Publicado: (2021)

Bilateral squamosal synostosis: unusual presentation of chromosome 1p12–1p13.3 deletion. Illustrative case
por: Chaisrisawadisuk, Sarut, et al.
Publicado: (2021)

Familial aortic disease and a large duplication in chromosome 16p13.1
por: Erhart, Philipp, et al.
Publicado: (2018)

Syndromic craniosynostosis associated with microdeletion of chromosome 19p13.12–19p13.2
por: Lyon, Sarah M., et al.
Publicado: (2015)

Micellization Thermodynamics of Pluronic P123 (EO(20)PO(70)EO(20)) Amphiphilic Block Copolymer in Aqueous Ethylammonium Nitrate (EAN) Solutions
por: He, Zhiqi, et al.
Publicado: (2017)

A boy with conduct disorder (CD), attention deficit hyperactivity disorder (ADHD), borderline intellectual disability, and 47,XXY syndrome in combination with a 7q11.23 duplication, 11p15.5 deletion, and 20q13.33 deletion
por: Kolaitis, Gerasimos, et al.
Publicado: (2016)

A 6.3 Mb maternally derived microduplication of 20p13p12.2 in a fetus with Brachydactyly type D and related literature review
por: Chen, Guangquan, et al.
Publicado: (2022)

P20-13. Identification and characterization of early founder populations in Rhesus macaques vaginally infected with SIVmac251
por: Stone, M, et al.
Publicado: (2009)

Phenotypic features of a microdeletion in chromosome band 20p13: A case report and review of the literature
por: Fang, Hung‐Hsiang, et al.
Publicado: (2019)

Malan syndrome in a patient with 19p13.2p13.12 deletion encompassing NFIX and CACNA1A genes: Case report and review of the literature
por: Bellucco, Fernanda T., et al.
Publicado: (2019)

16p13.3 duplication associated with non-syndromic pierre robin sequence with incomplete penetrance
por: Sun, Mingran, et al.
Publicado: (2014)

Complex Phenotype of a Boy With De Novo 16p13.3-13.2 Interstitial Deletion
por: Milone, Roberta, et al.
Publicado: (2016)

An 18.3-Mb Duplication on Chromosome 14q With Multiple Cardiac Anomalies and Clubfoot Was Identified by Microarray Analysis
por: Yoon, Jihoon G., et al.
Publicado: (2016)

Psychiatric disorders in children with 16p11.2 deletion and duplication
por: Niarchou, Maria, et al.
Publicado: (2019)

P20-20 LB. Indels in V4 share sequence features with insertions and deletions during somatic hypermutation of immunoglobulins
por: Guglietta, S, et al.
Publicado: (2009)

Breakpoint mapping of 13 large parkin deletions/duplications reveals an exon 4 deletion and an exon 7 duplication as founder mutations
por: Elfferich, Peter, et al.
Publicado: (2011)

Sensory processing in 16p11.2 deletion and 16p11.2 duplication
por: Smith, Harriet, et al.
Publicado: (2022)

Inherited deletion of 9p22.3‐p24.3 and duplication of 18p11.31‐p11.32 associated with neurodevelopmental delay: Phenotypic matching of involved genes
por: Ajami, Naser, et al.
Publicado: (2023)

Interstitial duplication of 20q11.22q13.11: A case report and review of literature
por: Goetzinger, Logan, et al.
Publicado: (2021)

Cannot write session to /tmp/vufind_sessions/sess_v72cm786g282aehnvkcfi6uqqd