Results 1 to 10 of about 55,479 (231)

Chromosomal mosaicism detected by karyotyping and chromosomal microarray analysis in prenatal diagnosis [PDF]

Journal of Cellular and Molecular Medicine, 2020
AbstractTo investigate the incidence and clinical significance of chromosomal mosaicism (CM) in prenatal diagnosis by G‐banding karyotyping and chromosomal microarray analysis (CMA). This is a single‐centre retrospective study of invasive prenatal diagnosis for CM.
Yi Zhang, Mei Zhong, Dezhong Zheng
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Importance and usage of chromosomal microarray analysis in diagnosing intellectual disability, global developmental delay, and autism; and discovering new loci for these disorders

Molecular Cytogenetics, 2018
Background Chromosomal microarray analysis is a first-stage test that is used for the diagnosis of intellectual disability and global developmental delay. Chromosomal microarray analysis can detect well-known microdeletion syndromes.
Ahmet Cevdet Ceylan, Senol Citli, Haktan Bagis Erdem, Ibrahim Sahin, Elif Acar Arslan, Murat Erdogan   +5 more
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A new case of 17p13.3p13.1 microduplication resulted from unbalanced translocation: clinical and molecular cytogenetic characterization

Molecular Cytogenetics, 2021
Copy number gain 17 p13.3p13.1 was detected by chromosomal microarray (CMA) in a girl with developmental/speech delay and facial dysmorphism. FISH studies made it possible to establish that the identified genomic imbalance is the unbalanced t(9;17 ...
Zhanna G. Markova, Marina E. Minzhenkova, Lyudmila A. Bessonova, Nadezda V. Shilova   +3 more
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Prenatal diagnosis and genetic counseling of a paternally inherited chromosome 15q11.2 microdeletion in a Chinese family

Molecular Cytogenetics, 2022
Background Proximal region of chromosome 15 long arm is rich in duplicons that, define five breakpoints (BP) for 15q rearrangements. 15q11.2 microdeletion has been previously associated with developmental delay, mental retardation, epilepsy, autism ...
Wenjuan Tang, Guowei Chen, Jingshu Xia, Ying Zhang   +3 more
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Chromosomal microarray analysis in prenatal diagnosis

Clinical and Experimental Obstetrics & Gynecology, 2017
Genome copy number variation (CNV) is an important cause of genetic and developmental disorders. In recent years, chromosomal microarray analysis (CMA) technology to test for genomic copy number variation has been developed and gradually applied in prenatal diagnostics, offering high diagnostic ability.
Yingjun, Xie, Xiaofang, Sun
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Prenatal diagnosis of chromosomal aberrations by chromosomal microarray analysis in foetuses with ventriculomegaly [PDF]

Scientific Reports, 2020
AbstractVentriculomegaly is considered to be linked to abnormal neurodevelopment outcome. The aim of this retrospective study was to investigate the current applications of chromosomal microarray analysis (CMA) in foetuses with ventriculomegaly. A total of 548 foetuses with ventriculomegaly detected by prenatal ultrasound underwent single nucleotide ...
Wang, Jiamin, Zhang, Zhu, Li, Qinqin, Zhu, Hongmei, Lai, Yi, Luo, Wei, Liu, Shanling, Wang, He, Hu, Ting   +8 more
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Prenatal diagnosis and genetic counseling of mosaicism for chromosome t (7; 14) with a favorable outcome

Clinical and Experimental Obstetrics & Gynecology, 2020
We report a case of prenatal diagnosis of mosaicism for chromosome t (7; 14) with a favorable fetal outcome. Similar chromosomal abnormalities have been observed in patients with hematologic malignancy.
D. Lu, D. Cao, Q. Zhao, X. Chen
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Molecular cytogenetic identification of small supernumerary marker chromosomes using chromosome microarray analysis [PDF]

Molecular Cytogenetics, 2019
This study aimed to evaluate the feasibility of chromosomal microarray analysis (CMA) in detecting the origin and structure of small supernumerary marker chromosomes (sSMCs) in prenatal and postnatal cases and to clarify sSMC-related genotype-phenotype correlations.Thirty-three cases carrying sSMCs were identified by banding cytogenetics.
Huili Xue, Hailong Huang, Yan Wang, Gang An, Min Zhang, Liangpu Xu, Yuan Lin   +6 more
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Screening for intellectual disability using high-resolution CMA technology in a retrospective cohort from Central Brazil. [PDF]

PLoS ONE, 2014
Intellectual disability is a complex, variable, and heterogeneous disorder, representing a disabling condition diagnosed worldwide, and the etiologies are multiple and highly heterogeneous.
Rodrigo Roncato Pereira, Irene Plaza Pinto, Lysa Bernardes Minasi, Aldaires Vieira de Melo, Damiana Mirian da Cruz e Cunha, Alex Silva Cruz, Cristiano Luiz Ribeiro, Cláudio Carlos da Silva, Daniela de Melo e Silva, Aparecido Divino da Cruz   +9 more
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Multiple Congenital Anomalies: Meningoencephalocele, Labiopalatoschisis and Clubfoot with Normal Chromosomal Analysis

Indonesian Journal of Obstetrics and Gynecology, 2022
Objective : To perform chromosomal microarray when similar case was found. Methods: Case report Case : G1P0A0, 20 years-old, 23-24 weeks gestation, normal BMI, was diagnosed by ultrasonography with multiple congenital anomaly consisted by ...
Sefty M. Samosir, Angghea Rachmiawaty, Ita Fatati, Alamsyah Aziz   +3 more
doaj   +1 more source