Cargando…

Prenatal diagnosis and genetic counseling of an inherited Xq24q25 deletion associated with normal phenotype

BACKGROUND: Copy number variants (CNVs) are an important source of normal and pathogenic genome variations. CNVs identified in prenatal cases need careful considerations and correct interpretation if those are harmless or harmful variants from the norm. CASE PRESENTATION: A 28-year-old, gravida 1, p...

Descripción completa

Detalles Bibliográficos
Autores principales:	Zhou, Yaqing, Zhang, Mingxi, Zhu, Yanmin, Zhao, Qi
Formato:	Online Artículo Texto
Lenguaje:	English
Publicado:	BioMed Central 2022
Materias:	Research
Acceso en línea:	https://www.ncbi.nlm.nih.gov/pmc/articles/PMC9635178/ https://www.ncbi.nlm.nih.gov/pubmed/36329552 http://dx.doi.org/10.1186/s13039-022-00626-w

Ejemplares similares

Prenatal diagnosis and genetic counseling of a paternally inherited microduplication 18q11.1 to 18q11.2 in a chinese family
por: Chen, Juan, et al.
Publicado: (2022)

The Role of the Reanalysis of Genetic Test Results in the Diagnosis of Dysmorphic Syndrome Caused by Inherited Xq24 Deletion including the UBE2A and CXorf56 Genes
por: Wolańska, Ewelina, 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)

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)

Prenatal diagnosis and genetic counseling of a 10p11.23q11.21 duplication associated with normal phenotype
por: Song, Jieping, et al.
Publicado: (2022)

Prenatal diagnosis and molecular cytogenetic characterization of an inherited microdeletion of 18q12.3 encompassing SETBP1
por: Zhou, Yaqing, et al.
Publicado: (2022)

Prenatal diagnosis and genetic counseling of a paternally inherited chromosome 15q11.2 microdeletion in a Chinese family
por: Tang, Wenjuan, et al.
Publicado: (2022)

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

A prenatal case of Simpson-Golabi-Behmel syndrome type 1 with a 0.26-Mb deletion fragment at Xq26.2 inherited from mother: Case report
por: Sha, Jing, et al.
Publicado: (2022)

Prenatal Diagnosis of Placental Mesenchymal Dysplasia with 46, X, Isochromosome Xq/45, X Mosaicism
por: Hsu, Chin-Chieh, et al.
Publicado: (2022)

Prenatal diagnosis and genetic counseling of an inherited unbalanced chromosome abnormalities in a Chinese family
por: Zhang, Ying, et al.
Publicado: (2022)

Deletion Xq27.3q28 in female patient with global developmental delays and skewed X-inactivation
por: Marshall, Lauren S, et al.
Publicado: (2013)

A maternally inherited 8.05 Mb Xq21 deletion associated with Choroideremia, deafness, and mental retardation syndrome in a male patient
por: Liang, Siying, et al.
Publicado: (2017)

Characterization of a Small Supernumerary Marker Chromosome Derived from Xq28 and 14q11.2 Detected Prenatally
por: Hasegawa, Akihiro, et al.
Publicado: (2018)

Prenatal diagnosis and molecular cytogenetic analyses of a paternal inherited deletion of 1q23.3 encompassing PBX1 gene
por: Luo, Man, et al.
Publicado: (2022)

A novel locus for X-linked congenital cataract on Xq24
por: Craig, Jamie E., et al.
Publicado: (2008)

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

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

Prenatal Diagnosis of a 2.5 Mb De Novo 17q24.1q24.2 Deletion Encompassing KPNA2 and PSMD12 Genes in a Fetus with Craniofacial Dysmorphism, Equinovarus Feet, and Syndactyly
por: Naud, Marie-Emmanuelle, et al.
Publicado: (2017)

Hemophilia B in a female with intellectual disability caused by a deletion of Xq26.3q28 encompassing the F9
por: Stoof, Sara C. M., et al.
Publicado: (2018)

Inherited Xq13.2-q21.31 duplication in a boy with recurrent seizures and pubertal gynecomastia: Clinical, chromosomal and aCGH characterization
por: Linhares, Natália D., et al.
Publicado: (2016)

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

Tuber Cinereum Diverticula in a 28-Month-Old with Xq21 Deletion Syndrome
por: Whitehead, Matthew T., et al.
Publicado: (2014)

Prenatal diagnosis of a rare de novo 1q22‐q25.1 chromosomal deletion syndrome using oligo array CGH
por: Shariati, Gholamreza, et al.
Publicado: (2018)

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)

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)

The presence of two rare genomic syndromes, 1q21 deletion and Xq28 duplication, segregating independently in a family with intellectual disability
por: Ha, Kyungsoo, et al.
Publicado: (2016)

Prenatal diagnosis of tetralogy of Fallot associated with chromosome 22q11 deletion.
por: Oh, Dong Chul, et al.
Publicado: (2002)

Prenatal Diagnosis of Cystic Hygroma related to a Deletion of 16q24.1 with Haploinsufficiency of FOXF1 and FOXC2 Genes
por: Garabedian, Matthew J., et al.
Publicado: (2012)

Prenatal diagnosis of a de novo tetrasomy 15q24.3‐25.3: Case report and literature review
por: Hu, Xiaonan, et al.
Publicado: (2020)

Prenatal diagnosis and genetic counseling of a uniparental isodisomy of chromosome 8 with no phenotypic abnormalities
por: Yu, Chunjiao, et al.
Publicado: (2022)

Phenotypic and genetic characterization of a patient with a de novo interstitial 14q24.1q24.3 deletion
por: Tassano, Elisa, et al.
Publicado: (2014)

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

The prenatal diagnosis and genetic counseling of chromosomal micro-duplication on 10q24.3 in a fetus: A case report and a brief review of the literature
por: Lai, Shaoyang, et al.
Publicado: (2020)

Phenotypic and genetic characterization of a family carrying two Xq21.1-21.3 interstitial deletions associated with syndromic hearing loss
por: Iossa, Sandra, et al.
Publicado: (2015)

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)

Deletion of FUNDC2 and CMC4 on Chromosome Xq28 Is Sufficient to Cause Hypergonadotropic Hypogonadism in Men
por: Deng, Xinxian, et al.
Publicado: (2020)

Genetic Counseling in Inherited Cardiomyopathies
por: Moharem-Elgamal, Sarah, et al.
Publicado: (2020)

Unexpected Inheritance of a Balanced Homologous translocation t(22q;22q) from father to a phenotypically normal daughter
por: Chopade, D. K., et al.
Publicado: (2014)

Prenatal diagnosis of trisomy 6q25.3-qter and monosomy 10q26.12-qter by array CGH in a fetus with an apparently normal karyotype
por: Marinescu, Ponnila S, et al.
Publicado: (2015)

Cannot write session to /tmp/vufind_sessions/sess_ksdl200od2qnqb98k67f7b29p6