Ana I Vásquez-Velásquez's research while affiliated with Mexican Institute of Social Security and other places

... Among constitutional X;Autosome translocations, those involving chromosome 12 are uncommon: just 5 such exchanges were listed in 2 overlapping compilations of >100 different t(X;A) cases published worldwide [1,2] and only 2 comparable exchanges were found among 62 distinct (X;A) translocations diagnosed in UK [3]. For comparison, there were 11 t(X;9) in such UK sample and 52 similar (X;9) exchanges recorded globally until 2016 [4]. Here, we report on a de novo unbalanced (X;12) translocation and compile 25 similar exchanges to summarize their relevant cytogenetic aspects. ...

... The typical WBS phenotype of case 23 who had a concomitant familial inv(X) (Rivera et al. 2016) can reliably be ascribed to her 7q11.23 deletion, a conclusion supported by the lack of CNVs in the X-chromosomes. ...

... Además, tales plagios domésticos han sido documentados por otros autores. 6,7 b) Plagio mediante una citación "troyana". De acuerdo con Shaw, 8 esta práctica consiste en tomar las ideas principales o ciertos enunciados textuales de una publicación ajena y presentarlos como propios al no citar dicha fuente en el lugar requerido sino en algún pasaje irrelevante, además de incluirla en la lista correspondiente. ...

... En raros casos se debe a una alteración genética espontánea o de novo, que puede presentarse por razones desconocidas en el desarrollo embrionario temprano, es decir, no transmitida por ninguno de sus progenitores. 4 Esta presentación tiene como objetivo dar a conocer un caso masculino (propositus), de novo, con una trisomía parcial del brazo corto del cromosoma 9. ...

... Other reports in the literature propose the intrachromosomal transposition of subtelomeres as a predisposing mechanism for duplication and deletions as identified for chromosomes 1 and 2 [18]. During meiosis, a subtelomeric exchange occurs with the formation of a bouquet arrangement on the nuclear membrane, which, for our case, may have facilitated the exchange of distal 6p and 6q [18,19]. Exchange of these Pearson et al. [11] Wauters et al. [12] ×3 subtelomeric regions occurring at the distal ends of chromosome 6 would not inhibit normal segregation if these small regions remained unpaired. ...

... Cytogenetically visible rearrangements occur in specific Xq regions. Two main critical regions have been located on the long arm of X chromosome, at Xq13-q21 and at Xq26-q27 [25,26]. A few deletions in distal Xq have also been reported. ...

... 9p deletions and duplications from the literature Genomic data were collected from the literature where approximate breakpoints are known for 53 individuals with 9p deletion and duplication syndromes. 12,[14][15][16][17]19,27,29,30,33,[35][36][37][38][39][40][41][42][43][44][45][46][47][48] Phenotype data from individuals with 9p deletion and duplication syndromes Phenotype data were collected from three papers 8,18,22 assessing individuals with 9p deletions (n ¼ 120 individuals) and one paper 22 assessing individuals with 9p duplications (n ¼ 99 individuals). The phenotypes were categorized into the following 13 regions/systems: general, head, ears, nose, mouth, neck, thorax, back, extremities, cardiovascular, respiratory, gastrointestinal, and urogenital. ...

... Karyotypic characteristics Clinical feature [16] duplication of 15q24/qter Ebstein anomaly of the tricuspid valve [17] inverted triplication of 15q24/q26 Overgrowth [18] tetrasomy 15q24.3/qter body asymmetry, facial dysmorphism, arachnodactyly, severe scoliosis, and mental [19] inv dup(15) (qter/q24::q24/qter) low-set dysplastic ears, micrognathia, high-arched palate, antimongoloid slant of palpebral fissures, epicanthal folds, bulbous nose, long philtrum, down-turned corners of the mouth, ulnar-deviated hands, and arachnodactyly of fingers and toes, skeletal dysplasia, mental retardation, overgrowth [20] tetrasomy 15q24/qter heart defect, bilateral hydronephrosis [21] duplication of chromosome 15q24q26.3 ...

... Unbalanced Y;autosome translocation leading to SRYpositive 45,X testicular DSD (formerly known as 45,X maleness) is an extremely rare condition. To our knowledge, only about 50 cases, including a single case with Y;7 translocation, have been reported [Vasquez-Velasquez et al., 2005;Cui et al., 2007;Chen et al., 2008;Gunel et al., 2008;Dati et al., 2011;Bilen et al., 2013;Röpke et al., 2013;Peng et al., 2015;Mareri et al., 2016]. Most of these patients were ascertained by contiguous gene deletion syndromes, such as cri-du-chat syndrome (5p deletion), 7q deletion syndrome, 9p deletion syndrome, and 18p deletion syndrome. ...

... Over 20 patients with a de novo rearranged 9 chromosome entailing a 9p terminal deletion and an adjacent duplication have been described (Table 1). Among them, five have had more complex rea(9) chromosomes involving a translocation with another chromosome (Chabchoub et al., 2007;Rivera et al., 2007;Hauge et al., 2008 [patient #8]; Rowe et al., 2009 [patient #8658]; Yang et al., 2012) and a single mosaic patient had an extra 9p marker (Pedurupillay et al., 2014). All 16 rea(9) chromosomes properly tested have had an inverted duplication with no single-copy region between both imbalances. ...