Cargando…

Prenatal diagnosis of 17q12 microdeletion and microduplication syndrome in fetuses with congenital renal abnormalities

BACKGROUND: Copy number variations (CNVs) involving the 17q12 region are associated with a broad range of clinical phenotypes. Deletion of the 17q12 chromosome results in structural or functional abnormalities in the kidney and urethra, type 5 diabetes (MODY5), and neurodevelopmental or neuropsychia...

Descripción completa

Detalles Bibliográficos
Autores principales:	Wan, Shanning, Zheng, Yunyun, Dang, Yinghui, Song, Tingting, Chen, Biliang, Zhang, Jianfang
Formato:	Online Artículo Texto
Lenguaje:	English
Publicado:	BioMed Central 2019
Materias:	Case Report
Acceso en línea:	https://www.ncbi.nlm.nih.gov/pmc/articles/PMC6525371/ https://www.ncbi.nlm.nih.gov/pubmed/31131025 http://dx.doi.org/10.1186/s13039-019-0431-7

Ejemplares similares

Detection of 21q11.2‐q22.11 deletions in a fetus by NIPT
por: Zheng, Yunyun, et al.
Publicado: (2019)

Prenatal phenotypes and pregnancy outcomes of fetuses with recurrent 1q21.1 microdeletions and microduplications
por: Yue, Fagui, et al.
Publicado: (2023)

Prenatal ultrasound phenotypic and genetic etiology of the 17q12 microduplication syndrome
por: Cai, Meiying, et al.
Publicado: (2022)

Investigation of Chromosomal Abnormalities and Microdeletion/ Microduplication(s) in Fifty Iranian Patients with Multiple Congenital Anomalies
por: Mohammadzadeh, Akbar, et al.
Publicado: (2019)

Genetic and ultrasonographic analyses of fetuses with 1q21.1q21.2 microdeletion/microduplication: a retrospective study
por: Guo, Nan, et al.
Publicado: (2023)

Detection of submicroscopic chromosomal aberrations by chromosomal microarray analysis for the prenatal diagnosis of central nervous system abnormalities
por: Song, Tingting, et al.
Publicado: (2020)

12q14 microduplication: a new clinical entity reciprocal to the microdeletion syndrome?
por: Dória, Sofia, et al.
Publicado: (2020)

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

Microdeletions and microduplications linked to severe congenital disorders in infertile men
por: Kikas, Triin, et al.
Publicado: (2023)

Efficiency of noninvasive prenatal testing for the detection of fetal microdeletions and microduplications in autosomal chromosomes
por: Pei, Yuanyuan, et al.
Publicado: (2020)

Chromosome 12q13.13q13.13 microduplication and microdeletion: a case report and literature review
por: Hu, Jie, et al.
Publicado: (2017)

Mouse models of 17q21.31 microdeletion and microduplication syndromes highlight the importance of Kansl1 for cognition
por: Arbogast, Thomas, et al.
Publicado: (2017)

Expanding the clinical phenotype of the 3q29 microdeletion syndrome and characterization of the reciprocal microduplication
por: Ballif, Blake C, et al.
Publicado: (2008)

Recurrent 17q12 microduplications contribute to renal disease but not diabetes
por: Cannon, Stuart, et al.
Publicado: (2023)

A report on seven fetal cases associated with 15q11‐q13 microdeletion and microduplication
por: Huang, Xiuzhu, et al.
Publicado: (2021)

Neurodevelopmental Genetic Diseases Associated With Microdeletions and Microduplications of Chromosome 17p13.3
por: Blazejewski, Sara M., et al.
Publicado: (2018)

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)

New microdeletion and microduplication syndromes: A comprehensive review
por: Nevado, Julián, et al.
Publicado: (2014)

Engineering microdeletions and microduplications by targeting segmental duplications with CRISPR
por: Tai, Derek J. C., et al.
Publicado: (2016)

A comprehensive list of human microdeletion and microduplication syndromes
por: Wetzel, Alyssa S., et al.
Publicado: (2022)

Clinical and molecular cytogenetic analyses of four families with 1q21.1 microdeletion or microduplication
por: Wang, Hong‐Dan, et al.
Publicado: (2017)

Noninvasive prenatal testing for chromosome aneuploidies and subchromosomal microdeletions/microduplications in a cohort of 8141 single pregnancies
por: Hu, Hua, et al.
Publicado: (2019)

Evaluation of the clinical utility of extended non-invasive prenatal testing in the detection of chromosomal aneuploidy and microdeletion/microduplication
por: Tian, Weifang, et al.
Publicado: (2023)

Microduplication of 15q13.3 and Microdeletion of 18q21.32 in a Patient with Moyamoya Syndrome
por: Luisa, Sciacca Francesca, et al.
Publicado: (2018)

A Case of 17q21.31 Microduplication and 7q31.33 Microdeletion, Associated with Developmental Delay, Microcephaly, and Mild Dysmorphic Features
por: Mc Cormack, Adrian, et al.
Publicado: (2014)

Intrauterine phenotype features of fetuses with 7q11.23 microduplication syndrome
por: Wang, Yunan, et al.
Publicado: (2023)

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

16p13.11 microdeletion/microduplication in fetuses: investigation of associated ultrasound phenotypes, genetic anomalies, and pregnancy outcome follow-up
por: Cai, Meiying, et al.
Publicado: (2022)

Partial microduplication in the histone acetyltransferase complex member KANSL1 is associated with congenital heart defects in 22q11.2 microdeletion syndrome patients
por: León, Luis E., et al.
Publicado: (2017)

Prune Belly Syndrome Associated with Interstitial 17q12 Microdeletion
por: Puvabanditsin, Surasak, et al.
Publicado: (2022)

Prenatal diagnosis of 1p34.3 interstitial microdeletion by aCGH in a fetus with jaw bone abnormalities
por: Dagklis, Themistoklis, et al.
Publicado: (2016)

Chromosome 15q13 microduplication in a fetus with cardiac rhabdomyoma: a case report
por: Lin, Chen-Zhao, et al.
Publicado: (2019)

Parental Imbalances Involving Chromosomes 15q and 22q May Predispose to the Formation of De Novo Pathogenic Microdeletions and Microduplications in the Offspring
por: Capra, Valeria, et al.
Publicado: (2013)

Efficiency of expanded noninvasive prenatal testing in the detection of fetal subchromosomal microdeletion and microduplication in a cohort of 31,256 single pregnancies
por: Xue, Huili, et al.
Publicado: (2022)

3q27.1 microdeletion causes prenatal and postnatal growth restriction and neurodevelopmental abnormalities
por: Barua, Subit, et al.
Publicado: (2022)

Prenatal Diagnosis of Combined Maternal 4q Interstitial Deletion and Paternal 15q Microduplication
por: Libotte, Francesco, et al.
Publicado: (2021)

"Familial" versus "Sporadic" intellectual disability: contribution of common microdeletion and microduplication syndromes
por: Rafati, Maryam, et al.
Publicado: (2012)

Prenatal identification of two discontinuous maternally inherited chromosome 7q36.3 microduplications totaling 507 kb including the sonic hedgehog gene in a fetus with multiple congenital anomalies
por: Micale, Mark, et al.
Publicado: (2017)

Noninvasive prenatal testing for chromosome aneuploidies and subchromosomal microdeletions/microduplications in a cohort of 42,910 single pregnancies with different clinical features
por: Chen, Yibo, et al.
Publicado: (2019)

Distinctive Skeletal Abnormalities With No Microdeletions or Microduplications on Array-CGH in a Boy With Mohr Syndrome (Oro-Facial-Digital Type II)
por: Kaissi, Ali Al, et al.
Publicado: (2015)

Cannot write session to /tmp/vufind_sessions/sess_i1svau8v2c9emfqosjmh9reihd