Cargando…

The Application of Optical Genome Mapping (OGM) in Severe Short Stature Caused by Duplication of 15q14q21.3

(1) Background: Optical genome mapping (OGM) is a novel approach to identifying genomic structural variations with high accuracy and resolution. We report a proband with severe short stature caused by 46, XY, der (16) ins (16;15) (q23; q21.3q14) that was detected by OGM combined with other tests and...

Descripción completa

Detalles Bibliográficos
Autores principales:	Ke, Xiaoan, Yang, Hongbo, Pan, Hui, Jiang, Yulin, Li, Mengmeng, Zhang, Hanzhe, Hao, Na, Zhu, Huijuan
Formato:	Online Artículo Texto
Lenguaje:	English
Publicado:	MDPI 2023
Materias:	Article
Acceso en línea:	https://www.ncbi.nlm.nih.gov/pmc/articles/PMC10218401/ https://www.ncbi.nlm.nih.gov/pubmed/37239376 http://dx.doi.org/10.3390/genes14051016

Ejemplares similares

4q21.2q21.3 Duplication: Molecular and Neuropsychological Aspects
por: Iourov, Ivan Y., et al.
Publicado: (2018)

Association studies between chromosomal regions 1q21.3, 5q21.3, 14q21.2 and 17q21.31 and numbers of children in Poland
por: Clark, Jeremy S. C., et al.
Publicado: (2022)

Validation of loci at 2q14.2 and 15q21.3 as risk factors for testicular cancer
por: Loveday, Chey, et al.
Publicado: (2017)

A rare de novo interstitial duplication of 15q15.3q21.2 in a boy with severe short stature, hypogonadism, global developmental delay and intellectual disability
por: Yuan, Haiming, et al.
Publicado: (2016)

Common variants at 2q37.3, 8q24.21, 15q21.3, and 16q24.1 influence chronic lymphocytic leukemia risk
por: Crowther-Swanepoel, Dalemari, et al.
Publicado: (2010)

De Novo 1q21.3q22 Duplication Revaluation in a “Cold” Complex Neuropsychiatric Case with Syndromic Intellectual Disability
por: Milone, Roberta, et al.
Publicado: (2021)

A foetus with 18p11.32-q21.2 duplication and Xp22.33-p11.1 deletion derived from a maternal reciprocal translocation t(X;18)(q13;q21.3)
por: Chen, Jun-Kun, et al.
Publicado: (2018)

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)

Pure Interstitial 7q21.3-q 31.1 Duplication: A Rare Segmental Genomic Aneuploidy: Case Report and Review of Cases with Distal and Similar Segment Involved
por: Di Nora, Alessandra, et al.
Publicado: (2021)

Common variants at 2q11.2, 8q21.3, and 11q13.2 are associated with major mood disorders
por: Xiao, Xiao, et al.
Publicado: (2017)

A Novel Cryptic Three-Way Translocation t(2;9;18)(p23.2;p21.3;q21.33) with Deletion of Tumor Suppressor Genes in 9p21.3 and 13q14 in a T-Cell Acute Lymphoblastic Leukemia
por: Othman, Moneeb A. K., et al.
Publicado: (2014)

Interstitial 6q21q23 duplication - variant of variable phenotype and incomplete penetrance or benign duplication?
por: Srebniak, Malgorzata I., et al.
Publicado: (2016)

The psychiatric phenotype of 15q11.2-q13.3 duplications
por: Budisteanu, M., et al.
Publicado: (2021)

Clinical characterization of chromosome 5q21.1–21.3 microduplication: A case report
por: Chen, Shuang, et al.
Publicado: (2020)

Chromosome Duplication (14q) and The Genotype Phenotype Correlation
por: Sadr-Nabavi, Ariane, et al.
Publicado: (2014)

Split Hand-Foot and Deafness in a Patient with 7q21.13-q21.3 Deletion Not Including the DLX5/6 Genes
por: Ambrosetti, Irene, et al.
Publicado: (2023)

A case of de novo duplication of 15q24-q26.3
por: Kim, Eun Young, et al.
Publicado: (2011)

A case of 15q11‐q13 duplication syndrome and literature review
por: Fu, Zhuo, et al.
Publicado: (2021)

Clinical Characteristics of Short-Stature Patients With Collagen Gene Mutation and the Therapeutic Response to rhGH
por: Chen, Meiping, et al.
Publicado: (2022)

Association of chromosome 5q21.3 polymorphisms with the exploratory eye movement dysfunction in schizophrenia
por: Ma, Yuanlin, et al.
Publicado: (2015)

A new mosaic der(18)t(1;18)(q32.1;q21.3) with developmental delay and facial dysmorphism
por: Choi, Young-Jin, et al.
Publicado: (2016)

Prenatal diagnosis of maternal partial trisomy 9p23p24.3 and 14q11.2q21.3 in a fetus: a case report
por: Wu, J. B., et al.
Publicado: (2020)

Corrigendum: Clinical Characteristics of Short-Stature Patients With Collagen Gene Mutation and the Therapeutic Response to rhGH
por: Chen, Meiping, et al.
Publicado: (2022)

Combined 22q11.1-q11.21 deletion with 15q11.2-q13.3 duplication identified by array-CGH in a 6 years old boy
por: Manolakos, Emmanouil, et al.
Publicado: (2011)

Combined 22q11.1-q11.21 deletion with 15q11.2-q13.3 duplication identified by array-CGH in a 6 years old boy
por: Manolakos, Emmanouil, et al.
Publicado: (2011)

The psychiatric phenotypes of 1q21 distal deletion and duplication
por: Linden, Stefanie C., et al.
Publicado: (2021)

A prenatal diagnosis case of partial duplication 21q21.1-q21.2 with normal phenotype maternally inherited
por: Jin, Chunyan, et al.
Publicado: (2021)

De novo 8p21.3→ p23.3 Duplication With t(4;8)(q35;p21.3) Translocation Associated With Mental Retardation, Autism Spectrum Disorder, and Congenital Heart Defects: Case Report With Literature Review
por: Gug, Cristina, et al.
Publicado: (2020)

A syndrome of severe intellectual disability, hypotonia, failure to thrive, dysmorphism, and thinning of corpus callosum maps to chromosome 7q21.13‐q21.3
por: Halperin, Daniel, et al.
Publicado: (2022)

Loss of heterozygosity for chromosomal regions 15q14-21.1, 17q21.31, and 13q12.3-13.1 and its relevance for prostate cancer
por: Nowacka-Zawisza, Maria, et al.
Publicado: (2015)

A three‑way complex translocation of (15;15;17)(q24;q14;q21) involving two breakpoints on chromosome 15 in acute promyelocytic leukemia: A case report
por: Kim, Do-Hoon
Publicado: (2023)

Abnormal sleep physiology in children with 15q11.2-13.1 duplication (Dup15q) syndrome
por: Saravanapandian, Vidya, et al.
Publicado: (2021)

Mosaic 15q duplication syndrome (tetrasomy 15q11.1-q13.2) in a child with behavior disorders: case report
por: Rodrigues, Maurício A., et al.
Publicado: (2019)

Digital karyotyping reveals probable target genes at 7q21.3 locus in hepatocellular carcinoma
por: Dong, Hui, et al.
Publicado: (2011)

Autism and duplication of 17q12q21.2 by array-CGH: a case report
por: Weingartner, Alana, et al.
Publicado: (2023)

Adult Height, 22q11.2 Deletion Extent, and Short Stature in 22q11.2 Deletion Syndrome
por: Heung, Tracy, et al.
Publicado: (2022)

A Quantitative Electrophysiological Biomarker of Duplication 15q11.2-q13.1 Syndrome
por: Frohlich, Joel, et al.
Publicado: (2016)

Correction: The psychiatric phenotypes of 1q21 distal deletion and duplication
por: Linden, Stefanie C., et al.
Publicado: (2021)

Colorectal Cancer Linkage on Chromosomes 4q21, 8q13, 12q24, and 15q22
por: Cicek, Mine S., et al.
Publicado: (2012)

Heterozygous Deletion of Chromosome 15q13.3 in a Boy with Developmental Regression, Global Developmental Delay, Hypotonia, and Short Stature
por: Strauss, Allison M., et al.
Publicado: (2022)

Cannot write session to /tmp/vufind_sessions/sess_uvloeip56up1mma3tr37atpoke