Results 1 to 10 of about 483,817 (151)

In vivo HAPLOID INDUCTION AND EFFICIENCY OF TWO CHROMOSOME DUPLICATION PROTOCOLS IN TROPICAL MAIZE [PDF]

Ciência e Agrotecnologia, 2015
Artificial chromosome duplication is one of the most important process in the attainment of doubled haploids in maize. This study aimed to evaluate the induction ability of the inducer line KEMS in a tropical climate and test the efficiency of the R1 ...
Evellyn Giselly de Oliveira Couto, Édila Vilela de Resende Von Pinho, Renzo Garcia Von Pinho, Adriano Delly Veiga, Fernanda de Oliveira Bustamante, Kaio Olimpio das Graças Dias   +5 more
doaj   +3 more sources

Prenatal Diagnosis of 17p13.1p13.3 Duplication

Case Reports in Medicine, 2012
We present here the first prenatal diagnosis of 17p13.1p13.3 duplication. 17p13.3 duplication has recently been defined as a new distinctive syndrome with several diagnosed patients.
Kirsi Kiiski, Tiiu Roovere, Riina Zordania, Harriet von Koskull, Nina Horelli-Kuitunen   +4 more
doaj   +2 more sources

Chromosome Duplication (14q) and The Genotype Phenotype Correlation [PDF]

International Journal of Fertility and Sterility, 2014
The rearrangement of chromosome 14 is a rare cytogenetic finding. Changes in the number or structure of chromosome 14 can have a variety of effects, such as delayed growth and development, and distinctive facial features.
Ariane Sadr-Nabavi, Morteza Saeidi
doaj   +1 more source

Delineation of an inverted tandem Xq23-26.3 duplication in a female featuring extremely short stature and mild mental deficiency

Molecular Cytogenetics, 2023
Background Partial duplications involving the long arm of the X chromosome are associated with mental retardation, short stature, microcephaly, and a wide range of physical findings. Female carriers usually have no clinical phenotype.
Shengfang Qin, Jiuzhi Zeng, Jin Wang, Mengling Ye, Qin Deng, Xueyan Wang, Zhuo Zhang, Dangying Yi, Yang Wu, Jesse Li-Ling   +9 more
doaj   +1 more source

Novel maternal duplication of 6p22.3-p25.3 with subtelomeric 6p25.3 deletion: new clinical findings and genotype–phenotype correlations

Molecular Cytogenetics, 2023
Background Copy-number variants (CNVs) drive many neurodevelopmental-related disorders. Although many neurodevelopmental-related CNVs can give rise to widespread phenotypes, it is necessary to identify the major genes contributing to phenotypic ...
Liyu Zhang, Xiaoling Tie, Fengyu Che, Guoxia Wang, Ying Ge, Benchang Li, Ying Yang   +6 more
doaj   +1 more source

Partial duplication of chromosome 20(pter->q12) [PDF]

Genetics and Molecular Biology, 2000
Partial duplication of chromosome 20 (20pter->20q12) resulting from a maternally inherited translocation t(14;20)(q11;q13) is described in a female child with neuropsychomotor retardation and multiple congenital anomalies.
Valter Augusto Della-Rosa, Angela M. Vianna-Morgante   +1 more
doaj   +1 more source

Application value of NIPT for uncommon fetal chromosomal abnormalities

Molecular Cytogenetics, 2020
Objective To investigate the clinical value of noninvasive prenatal testing (NIPT) for fetal chromosomal deletion, duplication, and sex chromosome abnormalities.
Lianli Yin, Yinghua Tang, Qing Lu, Aiping Pan, Mingfang Shi   +4 more
doaj   +1 more source

Translocated duplication of a targeted chromosomal segment enhances gene expression at the duplicated site and results in phenotypic changes in Aspergillus oryzae

Fungal Biology and Biotechnology, 2018
Background Translocated chromosomal duplications occur spontaneously in many organisms; segmental duplications of large chromosomal regions are expected to result in phenotypic changes because of gene dosage effects.
Tadashi Takahashi, Masahiro Ogawa, Atsushi Sato, Yasuji Koyama   +3 more
doaj   +1 more source

Generation of induced pluripotent stem cell GZHMCi005-A from amniotic fluid-derived cells with duplication of chromosome 8p

Stem Cell Research, 2021
Cases in which the duplication of chromosome 8p (dup 8p) is observed are characterized by facial dysmorphism, agenesis/hypoplasia of the corpus callosum, heart defects and severe mental retardation.
Cheng Yi, Cao Dingya, Liu Nengqing, Guan Hongmei, Liang Yi, Zhang Huimin, Xian jiajia, Song Bing, Sun Xiaofang   +8 more
doaj   +1 more source

Chromosome 15 structural abnormalities: effect on IGF1R gene expression and function

Endocrine Connections, 2017
Insulin-like growth factor 1 receptor (IGF1R), mapping on the 15q26.3 chromosome, is required for normal embryonic and postnatal growth. The aim of the present study was to evaluate the IGF1R gene expression and function in three unrelated patients with ...
Rossella Cannarella, Teresa Mattina, Rosita A Condorelli, Laura M Mongioì, Giuseppe Pandini, Sandro La Vignera, Aldo E Calogero   +6 more
doaj   +1 more source