..., and no deletions or duplications involving other chromosomes were identified in those patients. These duplications were associated with inverted duplication, tandem duplication, and duplication as the result of translocation, with no additional CNVs identified by microarray analysis. Confirmation by conventional...

... childbirths in mothers. In this study, we performed a cytogenetic analysis of 436 suspected DS cases using karyotyping and fluorescent in situ hybridization. We detected free trisomies (95.3%), robertsonian translocations (2.4%), isochromosomes (0.6%), and mosaics (1.2%). We observed a slightly higher...

..., bicuspid aortic valve, and aortic dystrophy in a 19-year-old male patient. In a subset of 15% of the cells, the patient carried a derivative chromosome 10 generated by a nonreciprocal (10;13) translocation inherited from his healthy mother who carried the translocation in a balanced and homogeneous state...

.... Chinese Spring was investigated using molecular cytogenetic techniques: fluorescence in situ hybridization and genomic in situ hybridization. A wheat-rye translocation (T4DS.7RL), 8 substitution lines, and a ditelosomic addition line (7RSdt) were identified. In the substitution lines, 1, 2, or 4 pairs...

... 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...

...Erika Uehara; Atsushi Hattori; Hirohito Shima; Akira Ishiguro; Yu Abe; Tsutomu Ogata; Eishin Ogawa; Maki Fukami Unbalanced translocations of Y-chromosomal fragments harboring the sex-determining region Y gene ( SRY ) to the X chromosome or an autosome result in 46,XX and 45,X testicular disorders...

... of residual telomere sequences at the site of translocation in 3 of the 4 cases makes a compelling case for telomere fusion. This is the first description of a recurrent telomere fusion event in any malignant condition. The 20q subtelomeric region was retained in all 4 examples despite deletion of the 20q12...

... rhabdomyosarcoma (ARMS), a subtype of RMS, harbors a signature genetic makeup characterized by specific translocations. The type of translocation and associated genetic aberrations correlate with disease progression, hence we used multiple molecular modalities including high-resolution array comparative genomic...

...)t(13;15)(q14.1;q12)mat. SNP array detected the precise deletion/duplication points and the parental origin of the 15q deletion. Multicolor FISH confirmed a balanced translocation t(13;15)(q14.1;q12) in her mother. Her facial appearance showed some features of dup(13)(pter→q14). Also, she lacked...

... Translocation © 2015 S. Karger AG, Basel 2015 Copyright / Drug Dosage / Disclaimer Copyright: All rights reserved. No part of this publication may be translated into other languages, reproduced or utilized in any form or by any means, electronic or mechanical, including photocopying, recording...

... leukemia (AML) is associated with poor prognosis. It is most often a sole translocation and more rarely observed as complex chromosomal forms. We describe an AML case with complex karyotype abnormalities involving chromosome bands 6p23, 6q13, 7p22, and 9q34. RNA sequencing analysis revealed that exon 17...

...Ji Liang; Yongsheng Zhang; Ruixue Wang; Zuowen Liang; Jiaming Yue; Ruizhi Liu A derivative X chromosome formed by translocation involving an X chromosome and a chromosome 18 in a Klinefelter syndrome (KS) patient with a 47,XXY karyotype has not been reported before. In this study, we present...

...Federica Natacci; Giulia Melloni; Francesca Motta; Rosamaria Silipigni; Fabio Doniselli; Tommaso Rizzuti; Marcello Frigerio; Silvana Guerneri Parental balanced translocation is one of the traditional indications for invasive prenatal diagnosis. Usually, the diagnostic process is straightforward...

...L. Pylyp; V. Zukin; D. Mykytenko; L. Spinenko Balanced chromosomal translocations do not normally have phenotypic manifestation, but lead to increased risk of infertility, miscarriage and live-birth of chromosomally unbalanced offspring in carriers. The risk assessment of such outcomes in carriers...

... in this species are mainly numerical and affecting sex chromosomes. During routine cytogenetic analyses performed on young Italian Mediterranean river buffalo bulls in the progeny test, 1 animal was found to be carrier of a never before reported translocation t(1p;18) originated by fission of BBU1 and subsequent...

... was revealed, but it was interrupted by a translocation involving chromosomes 3 and 5, a new rearrangement for the genus. Also, a transposition on chromosome 2 was found in L. japonicus ‘Miyakojima’. Furthermore, changes in the number, size, and position of rDNA sites were observed, as well as an intraspecific...

...M. Höckner; A. Spreiz; A. Frühmesser; A. Tzschach; A. Dufke; O. Rittinger; V. Kalscheuer; S. Singer; M. Erdel; C. Fauth; V. Grossmann; G. Utermann; J. Zschocke; D. Kotzot De novo cytogenetically balanced reciprocal non-Robertsonian translocations are rare findings in clinical cytogenetics and might...

... and congenital hypothyroidism [Senée et al., 2006]. The present observation constitutes the 7th instance of 5q distal duplication due to a (5;9) translocation (supplementary table 1 and overview). In about 2/3 of the 160 patients compiled in this report, the 5q distal duplication resulted from reciprocal...

...L. Backx; E. Seuntjens; K. Devriendt; J. Vermeesch; H. Van Esch We identified a male patient presenting with intellectual disability and agenesis of the corpus callosum, carrying an apparently balanced, reciprocal, de novo translocation t(6;14)(q25.3;q13.2). Breakpoint mapping, using array painting...

... give an account on a 71-year-old man with B-CLL and a translocation t(6;9) in his diagnostic bone marrow. Subsequent chromosome analysis of his blood lymphocytes revealed a constitutional karyotype 46,XY,t(6;9) (p12;p24) that has not been previously reported. Seeking for gene disruption correlated...