Negative heterosis for meiotic recombination rate in spermatocytes of the domestic chicken Gallus gallus by L. P. Malinovskaya, K. V. Tishakova, T. I. Bikchurina, A. Yu. Slobodchikova, N. Yu. Torgunakov, A. A. Torgasheva, Y. A. Tsepilov, N. A. Volkova, P. M. Borodin

“…Recombination is necessary for chromosome synapsis and segregation. However, it involves a massive generation of double-strand DNA breaks, erroneous repair of which may lead to germ cell death or various mutations and chromosome rearrangements. …”
Get full text

Insufficient gene expression and lost gene regulatory network may underlie the mechanism of Hirschsprung Disease in 5p–syndrome by Yizhao Luan, Peng Li, Yuanyuan Luo, Hong Zhang, Xiaochun Zhu, Yan Zhang, Aihua Yin, Qiang Wu, Chengwei Chai

“…Cri-du-chat syndrome (CDC, OMIM 123450) is a rare chromosomal syndrome that results from partial deletions on the short arm of chromosome 5, known as 5p minus. …”
Get full text

Here and there: the double-side transgene localization by P. A. Salnikov, A. A. Khabarova, G. S. Koksharova, R. V. Mungalov, P. S. Belokopytova, I. E. Pristyazhnuk, A. R. Nurislamov, P. Somatich, M. M. Gridina, V. S. Fishman

“…This can be useful for precise insertion mapping and for screening approaches in the field of chromosome engineering, where chromosomal recombination events between transgenes occur in a cell population. …”
Get full text

Cytogenetically Unrelated Clones in Acute Myeloid Leukemia Showing Different Responses to Chemotherapy by Kohei Kasahara, Masahiro Onozawa, Naohiro Miyashita, Emi Yokohata, Miho Yoshida, Minoru Kanaya, Mizuha Kosugi-Kanaya, Ryo Takemura, Shojiro Takahashi, Junichi Sugita, Akio Shigematsu, Mutsumi Takahata, Shinichi Fujisawa, Daigo Hashimoto, Katsuya Fujimoto, Tomoyuki Endo, Takeshi Kondo, Takanori Teshima

“…We concluded that one clone was de novo AMoL with chromosome 6, 8, 11, 13, and 19 trisomy and that the other was acute myeloid leukemia with myelodysplasia-related changes　(AML-MRC) with chromosome 7 monosomy showing different responses to chemotherapy. …”
Get full text

Synchronous clonally related anaplastic large cell lymphoma and malignant histiocytosis by Mirvate Harb, Tom Abrassart, Laurent Dewispeleare, Pierre Sidon, Natacha Dirckx, Anne-laure Trepant, Julie Castiaux, Pierre Heimann, Jean-Francois Emile, Hussein Farhat

“…However, these two cells populations shared common chromosomal abnormalities. First line treatment protocol included Brentuximab vedotin, cyclophosphamide, doxorubicin, and methylprednisolone. …”
Get full text

Application of copy number variation sequencing combined with whole exome sequencing in prenatal left–right asymmetry disorders by Yu Qin, Muon Senglong, Koksear Touch, Juan Xiao, Ruijie Fang, Qingling kang, Lei Fan, Shufang Li, Jing Liu, Jianli Wu, Yuanyuan Wu, Xinwei Shi, Haiyi Liu, Xun Gong, Xingguang Lin, Ling Feng, Suhua Chen, Wei Li

“…This study aims to explore the genetic underpinnings of chromosomal variants and individual genes in fetuses afflicted with prenatal LR asymmetry disorder. …”
Get full text

Pathobiology of Anaplastic Large Cell Lymphoma by Pier Paolo Piccaluga, Anna Gazzola, Claudia Mannu, Claudio Agostinelli, Francesco Bacci, Elena Sabattini, Carlo Sagramoso, Roberto Piva, Fernando Roncolato, Giorgio Inghirami, Stefano A. Pileri

“…The phenotype is reported in detail: the expression of the ALK protein as well as the chromosomal abnormalities is discussed with their potential pathogenetic implications. …”
Get full text

A Fuzzy Genetic Algorithm Based on Binary Encoding for Solving Multidimensional Knapsack Problems by M. Jalali Varnamkhasti, L. S. Lee

“…Firstly, a sexual selection mechanism which utilizes the mate chromosome during selection is used. The second technique focuses on controlling the genetic parameters by applying the fuzzy logic controller. …”
Get full text

Four Cases of Myeloproliferative Disorders Associated With Down Syndrome: Distinguishing ML-DS From TAM-DS by Kévin Boumeghar, Sylvie Daliphard, Nimrod Buchbinder, Catherine Boutet, Dominique Penther, Pascaline Etancelin, Julien Bourgain, Gérard Buchonnet, Elsa Bera, Victor Bobée

“…Down syndrome (DS) is defined by an extra copy of chromosome 21 and confers an increased susceptibility to hematological disorders. …”
Get full text

FHIT Doubts are Clear Now by Anjilna Wali

“…The fragile histidine triad (FHIT) gene is a bonafide tumor-suppressor gene present on the short arm of chromosome 3 and its loss of function has been evaluated in different types of cancers. …”
Get full text

Unusual Presentation of Pelizaeus-Merzbacher Disease: Female Patient with Deletion of the Proteolipid Protein 1 Gene by Teva Brender, Donna Wallerstein, John Sum, Robert Wallerstein

“…In addition to this, our patient has skewed X chromosome inactivation which adds to her presentation as her unaffected mother also carries the mutation.…”
Get full text

Genetics of Uveal Melanoma and Cutaneous Melanoma: Two of a Kind? by Thomas van den Bosch, Emine Kilic, Dion Paridaens, Annelies de Klein

“…In this review we discuss the differences and similarities along with the genetic research techniques available and the contribution to our current understanding of melanoma. The several chromosomal aberrations already identified prove to be very strong predictors of decreased survival in CM and UM patients. …”
Get full text

Severe Short Stature in an Adolescent Male with Prader-Willi Syndrome and Congenital Adrenal Hyperplasia: A Therapeutic Conundrum by Meredith Wasserman, Erin M. Mulvihill, Angela Ganan-Soto, Serife Uysal, Jose Bernardo Quintos

“…Prader-Willi syndrome (PWS) is a genetic disorder resulting from a defect on chromosome 15 due to paternal deletion, maternal uniparental disomy, or imprinting defect. …”
Get full text

Genomic insights into familial adenomatous polyposis: unraveling a rare case with whole APC gene deletion and intellectual disability by Hiroki Tanabe, Masami Ijiri, Kenji Takahashi, Honoka Sasagawa, Tomomi Kamanaka, Shohei Kuroda, Hiroki Sato, Takeo Sarashina, Yusuke Mizukami, Yoshio Makita, Toshikatsu Okumura

“…Whole-genome array comparative genomic hybridization (aCGH) revealed germline deletions at chromosome 5q22.1-22.2 encompassing the entire APC gene. …”
Get full text

Sacroiliitis and Polyarteritis Nodosa in a Patient with Familial Mediterranean Fever by Yunus Ugan, Atalay Doğru, Hüseyin Şencan, Mehmet Şahin, Şevket Ercan Tunç

“…The condition is known to be caused by mutations in the MEFV (Mediterranean FeVer) gene, located in the short arm of chromosome 16. While more than 310 sequence variants in the MEFV gene have been described to date, the diagnosis is still established clinically. …”
Get full text

Gorlin-Goltz Syndrome by Padma Pandeshwar, K. Jayanthi, D. Mahesh

“…The Gorlin-Goltz syndrome (GGS) (the nevoid basal cell carcinoma syndrome—NBCCS) is a rare autosomal dominant syndrome caused due to mutations in the PTCH (patched) gene found on chromosome arm 9q. The syndrome, characterized by increased predisposition to develop basal cell carcinoma and associated multiorgan anomalies, has a high level of penetrance and variable expressiveness. …”
Get full text

Microduplication of 3p26.3 Implicated in Cognitive Development by Leah Te Weehi, Raj Maikoo, Adrian Mc Cormack, Roberto Mazzaschi, Fern Ashton, Liangtao Zhang, Alice M. George, Donald R. Love

“…Several deletions, one translocation, and one duplication have previously been described in this region of chromosome 3. The CHL1 gene has been proposed as a dosage-sensitive gene with a central role in cognitive development, and so the microduplication reported here appears to be implicated in our patient’s phenotype.…”
Get full text

Noonan's Syndrome. Case Report by Mirsa Rosas Hernández, Elba Daisy Rivas Rodríguez, Raúl E. Silva Silva

“…Noonan's syndrome is a genetic, little-known disease, produced for a mutation in the 12q22 chromosome. Few data on this affection exists in Cuba; since studies with a significant sample have not been conducted that demonstrate the real frequency of the affection. …”
Get full text

The interphase period “germination–heading” of 8x and 6x triticale with different dominant Vrn genes by P. I. Stepochkin, A. I. Stasyuk

“…It means that the genetic material from the chromosome of the fifth homeologous group of the D genome of the bread wheat is included in the plant genotypes. …”
Get full text

Cell-associated flagella enhance the protection conferred by mucosally-administered attenuated Salmonella Paratyphi A vaccines. by Orit Gat, James E Galen, Sharon Tennant, Raphael Simon, William C Blackwelder, David J Silverman, Marcela F Pasetti, Myron M Levine

“…Paratyphi A strain ATCC 9150 was first deleted for the chromosomal guaBA locus, creating CVD 1901. Further chromosomal deletions in fliD (CVD 1901D) or flgK (CVD 1901K) were then engineered, resulting in the export of unpolymerized FliC, without impairing its overall expression. …”
Get full text