Cao, Mei-Ling Zhu, Bin-Lu Sun, Yuan-Yuan Qiu, Guang-Rong Fu, Wei-Neng Jiang, Hong-Kun
Published in
Cytogenetic and Genome Research
It is currently believed that the TBX1 gene is one of the core genes of congenital heart disease (CHD). However, there are few studies on the abnormal regulation of TBX1 gene expression. The purpose of this work was to investigate the role of miR-144 and TBX1 in cardiac development by studying the regulatory relationship and mechanism of miR-144 on...
Heitkam, Tony
Published in
Cytogenetic and Genome Research
Kuo, Haung-Tsung Chen, Chieh-Ho Lin, Chien-Yu Chang, Ya-Sian Chang, Jan-Gowth
Published in
Cytogenetic and Genome Research
Williams-Beuren Syndrome (WBS; OMIM #194050) is a rare neurodevelopmental disorder that results from a deletion at 7q11.23 spanning 25-27 genes. We performed chromosomal microarray analysis (CMA) in 9 Taiwanese patients with WBS to confirm the diagnosis. These samples had already been examined by FISH and diagnosed as WBS. Pathogenic copy number va...
Beaumont, Marion Tucker, Elena J. Mary, Laura Launay, Erika Lurton, Yann Pimentel, Céline Rollier, Paul Akloul, Linda Beneteau, Claire Chevallier-Bordeau, Solène
...
Published in
Cytogenetic and Genome Research
Genetic factors are responsible for 15% of male infertility conditions. Numerical and structural chromosomal anomalies (related to the Y chromosome or to the autosomes) are validated genetic factors leading to spermatogenic quantitative defects with a frequency depending on the severity of the phenotype. The most frequent structural chromosomal rea...
Mariotto, Sandra Centofante, Liano Venere, Paulo C. Ferreira, Daniela C. Artoni, Roberto F.
Published in
Cytogenetic and Genome Research
The karyotypes and other chromosomal markers of 4 catfish species, namely Lasiancistrus schomburgkii, Lasiancistrus sp., Araichthysloro, and Megalancistrus sp., members of a taxonomically complex and speciose tribe of catfishes Ancistrini, Hypostominae, were examined using conventional (Giemsa staining, Ag-NOR, and C-banding) and molecular cytogene...
Livingston, Gordon K. Ryan, Terri L. Smith, Tammy L. Escalona, Maria B. Foster, Alvis E. Balajee, Adayabalam S.
Published in
Cytogenetic and Genome Research
Here, we report the findings of a 25-year cytogenetic follow-up study on a male patient who received 2 rounds of radioiodine treatment within a span of 26 months (1.78 GBq in 1992 and 14.5 GBq in 1994). The patient was 34 years old with a body mass index of 25 at the time of the first radioiodine treatment. Multicolor FISH and multicolor banding (m...
Lloveras, Elisabet Canellas, Anna Barranco, Laura Alves, Claudia Vila-Real, Marta Ventura, Vania Fernández, Daniel Mendez, Begona Piqué, Meritxell Reis-Lima, Margarida
...
Published in
Cytogenetic and Genome Research
1q44 deletion is a rare syndrome associated with facial dysmorphism and developmental delay, in particular related with expressive speech, seizures, and hypotonia (ORPHA:238769). Until today, the distinct genetic causes for the different symptoms remain not entirely clear. We present a patient with a 2.3-Mb 1q44 deletion, including AKT3, ZBTB18, an...
Liu, Ruijuan Yu, Feng Wei, Linna Liu, Bo Liu, Demei Dou, Quanwen
Published in
Cytogenetic and Genome Research
The St genome, originating from Pseudoroegneria (Nevski) Á. Löve, plays an important role in Triticeae. In this study, the Pseudoroegneria stipifolia genome (2n = 2x = 14, StSt) was screened to identify sequences that could be used for FISH. A total of 163 effective clones were obtained from the genomic plasmid library which was constructed by DNas...
Xefteris, Anastasios Sekerli, Eleni Arampatzi, Antonia Charisiou, Sofia Oikonomidou, Eirini Efstathiou, Georgios Peroulis, Nikolaos Malamidou, Aggeliki Tsoulou-Panidou, Eleni Agakidou, Eleni
...
Published in
Cytogenetic and Genome Research
In the present study, we report a case of a female infant with a de novo unbalanced t(14;15) translocation resulting in a 14-Mb deletion of the 15q11.1q14 region. The deletion includes the 15q11.2q13 Prader-Willi syndrome (PWS) critical region, while no known deleted genes are found in the 14qter region. According to literature review, patients wit...
Massara, Lucía S. Delea, Marisol Espeche, Lucía Bruque, Carlos D. Oliveri, Jaen Brun, Paloma Furforo, Lilian Dain, Liliana Rozental, Sandra
Published in
Cytogenetic and Genome Research
Chromosomal trisomies are the most frequent major chromosomal anomalies in humans and can be present in a mosaic or a non-mosaic constitution. We report the first case of a newborn girl presenting with multiple congenital anomalies and a double mosaic trisomy involving chromosome 14 and the X chromosome detected by array CGH. Karyotype analysis rev...
