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Chinese Medical Journal 2016年第6期129卷 672-678页

作者： Wen-Xu yang Hong Pan Lin Li Hai-Rong Wu Song-Tao Wang Xin-Hua Bao Yu-Wu Jiang Yu Qi Department of Central Laboratory Peking University First Hospital Beijing 100034 China Department of Pediatrics Peking University First Hospitatl Beijing :100034 China

Background： Wolf-Hirschhorn syndrome （WHS） is a contiguous gene syndrome that is typically caused by a deletion of the distal portion of the short arm of chromosome 4. However, there are few reports about the features of Chinese WHS patients. This study aimed to characterize the clinical and molecular cytogenetic features of Chinese WHS patients using the combination of multiplex ligation-dependent probe amplification （MLPA） and array comparative genomic hybridization （array CGH）. Methods： Clinical information was collected from ten patients with WHS. genomic DNA was extracted from the peripheral blood of the patients. The deletions were analyzed by MLPA and array CGH. Results： All patients exhibited the core clinical symptoms of WHS, including severe growth delay, a Greek warrior helmet facial appearance, differing degrees of intellectual disability, and epilepsy or electroencephalogram anomalies. The 4p deletions ranged from 2.62 Mb to 17.25 Mb in size and included LETM1, WHSC1, and FGFR3. Conclusions： The combined use of MLPA and array CGH is an effective and specific means to diagnose WHS and allows for the precise identification of the breakpoints and sizes of deletions. The deletion of genes in the WHS candidate region is closely correlated with the core WHS phenotype.

关键词： array comparative genomic hybridization Multiplex Ligation-dependent Probe Amplification Wolf-HirschhornSyndrome

Advances in preimplantation genetic diagnosis/screening

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Science China(Life Sciences) 2014年第7期57卷 665-671页

作者： YAN LiYing WEI Yuan HUANG Jin ZHU XiaoHui SHI XiaoDan XIA Xi YAN Jie LU CuiLing LIAN Ying LI Rong LIU Ping QIAO Jie Department of Obstetrics and Gynecology Peking University Third Hospital Key Laboratory of Assisted Reproduction ministry of education Beijing Key Laboratory of Reproductive Endocrinology and Assisted Reproduction

Preimplantation genetic diagnosis(PGD)gives couples who have a high risk of transmitting genetic disorders to their baby the chance to have a healthy offspring through embryo genetic analysis and *** genetic screening(PGS)is an effective method to select euploid embryos that may prevent repeated implantation failure or ***,how and to whom PGS should be provided is a controversial *** first successful case of PGD of a human being was reported in 1990,and there have been tremendous improvements in this technology since *** embryo biopsy and genetic technologies have been improved dramatically,which increase the accuracy and expand the indications of PGD/PGS.

关键词： preimplantation genetic diagnosis preimplantation genetic screening indications biopsy methods array comparative genomic hybridization next-generation sequencing

genomic landscape of pancreatic neuroendocrine tumors

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World Journal of Gastroenterology 2014年第46期20卷 17498-17506页

作者： Niklas Gebauer Christian Schmidt-Werthern Veronica Bernard Alfred C Feller Tobias Keck Nehara Begum Dirk Rades Hendrik Lehnert Georg Brabant Christoph Thorns Department of Pathology University Hospital of Schleswig-Holstein23538 LuebeckGermany Department of Surgery University Hospital of Schleswig-Holstein23538 LuebeckGermany Department of Radiation Oncology University Hospital of Schleswig-Holstein 23538 LuebeckGermany Department of Internal Medicine I University Hospital of Schleswig-Holstein23538 LuebeckGermany

AIM: To investigate the prognostic role of genomic stability and copy number alterations (CNAs) pancreatic neuroendocrine tumors (PanNETs).

关键词： array comparative genomic hybridization Copy number alterations Chromosomal aberrations Pancreatic neuroendocrine tumors Prognosis

Methyl-CpG-Binding protein 2 duplication syndrome in a Chinese patient:A case report and review of the literature

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世界临床病例杂志 2023年第27期11卷 6505-6514页

作者： Xu-Hang Xing Russel Takam Xiu-Ying Bao Nour Abdallah Ba-alwi Hong Ji Department of Pediatrics The First Part of The First Affiliated Hospital of Dalian Medical UniversityDalian 116011Liaoning ProvinceChina

BACKGROUND Chromosomal Xq28 region duplication encompassing methyl-CpG-binding protein 2(MECP2)results in an identifiable phenotype and global developmental delay known as MECP2 duplication syndrome(MDS).This syndrome has a wide range of clinical manifestations,including abnormalities in appearance,neurodevelopment,and gastrointestinal motility;recurrent infections;and ***,we report a case of confirmed MDS at our *** SUMMARY A 12-year-old Chinese boy presented with intellectual disability(poor intellectual[reasoning,judgment,abstract thinking,and learning]and adaptive[lack of communication and absent social skills,apraxia,and ataxia]functioning)and *** had no history of recurrent infections,seizures,or bowel dysfunction,which is different from that in reported *** comparative genomic hybridization confirmed MECP2 duplication in the patient and his mother who is a *** duplication size was the same in the patient and his *** prophylactic antibiotic or anti-seizure therapy was offered to the patient or his mother before or after the *** MDS is rare and has various clinical *** suspicion is critical in patients presenting with developmental delays.

关键词： Methyl-CpG-binding protein 2 Neurodevelopmental Delay Xq28 duplication array comparative genomic hybridization Case report

Identification of Tumor Evolution Patterns by Means of Inductive Logic Programming

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genomics, Proteomics & Bioinformatics 2008年第2期6卷 91-97页

作者： Vitoantonio Bevilacqua Patrizia Chiarappa Giuseppe Mastronardi Filippo Menolascina Angelo Paradiso Stefania Tommasi Polytechnic of Bari 70125 Bari Italy National Cancer Institute 70126 Bari Italy Polytechnic of Bari 70125 Bari Italy National Cancer Institute 70126 Bari Italy

In considering key events of genomic disorders in the development and progression of cancer, the correlation between genomic instability and carcinogenesis is currently under investigation. In this work, we propose an inductive logic programming approach to the problem of modeling evolution patterns for breast cancer. Using this approach, it is possible to extract fingerprints of stages of the disease that can be used in order to develop and deliver the most adequate therapies to patients. Furthermore, such a model can help physicians and biologists in the elucidation of molecular dynamics underlying the aberrations-waterfall model behind carcinogenesis. By showing results obtained some hints about further approach to the hypotheses. on a real-world dataset, we try to give knowledge-driven validations of such

关键词： array comparative genomic hybridization breast cancer cancer evolution model,gene selection inductive logic programming

Cryptic NUP214-ABL1 fusion with complex karyotype, episomes and intra-tumor genetic heterogeneity in a T-cell lymphoblastic lymphoma

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Journal of Cancer Metastasis and Treatment 2018年第1期4卷 597-605页

作者： Moneeb A.K Othman Beate Grygalewicz Agnieszka Kołkowska-Lesniak Joana B.Melo Isabel M.Carreira Thomas Liehr Jena University Hospital Friedrich Schiller UniversityInstitute of Human GeneticsJena D-07740Germany Cytogenetic Laboratory Maria Sklodowska-Curie Memorial Cancer Centre and InstituteWarsaw 02-781Poland Department of Lymphatic Diseases Institute of Hematology and TransfusionWarsaw 02-776Poland Laboratory of Cytogenetics and genomics Faculty of MedicineUniversity of CoimbraCoimbra 3000-354Portugal Centro de Investigac̃ao em Meio Ambiente Genetica e Oncobiologia(CIMAGO)Coimbra 3001-301Portugal

T-lymphoblastic lymphoma(T-LBL)is a rare and aggressive form of non-Hodgkin’s lymphoma and little is known about their molecular ***,complex karyotypes were already related to this group of malignancy and associated with poor ***,we describe a 17-year-old female being diagnosed with T-LBL and a normal karyotype after standard G-banding with trypsin-Giemsa(GTG)-***,further analyses including high-resolution molecular approaches,array-comparative genomic hybridization(aCGH),multiplex ligation-dependent probe amplification,fluorescence in situ hybridization and multicolor chromosome banding revealed a cryptic complex karyotype,NUP214-ABL1 gene fusion,episomes and intra-tumor genetic *** addition,homozygous loss of CDKN2A,as well as amplification of oncogene TLX1(HOX11)were ***,NUP214-ABL1 fusion gene replicated autonomously in this case as ***,highly amplification of NUP214-ABL1 fusion gene defines possibly a new subgroup of T-LBL patients which accordingly could benefit from treatment with tyrosine kinase *** episomes are missed in standard karyotyping aCGH should be performed routinely in T-LBL to possibly detect more of such cases.

关键词： T-cell lymphoblastic lymphoma NUP214-ABL1 fusion complex karyotype episomes intra-tumor genetic heterogeneity molecular cytogenetics array comparative genomic hybridization

Prenatal Testing or Screening?

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Maternal-Fetal Medicine 2020年第4期2卷 217-222页

作者： Evans Mark I. Evans Shara M. Fetal Medicine Foundation of America New YorkNY 10065USA Comprehensive Genetics New YorkNY 10065USA Department of Obstetrics&Gynecology Icahn School of Medicine at Mt.SinaiNew YorkNY 10029USA Department of Maternal Child Health Gillings School of Public Health University of North Carolina at Chapel HillChapel HillNY 27599USA

Over the past 50 years,the scope and extent of prenatal diagnosis and screening for genetic disorders have improved *** has been a pendulum like swing from testing to screening back and forth as new technologies *** concurrent developments of cell free fetal DNA analysis of maternal blood has dramatically changed patient’s choices towards ***,with the use of array comparative genomic hybridization of fetal DNA that requires diagnostic procedures(Chorionic villus sampling and amniocentesis),much more extensive diagnosis can be *** noninvasive methods can replicate what can be done with diagnostic procedures there still will be a"price to be paid"for opting for the non-invasive methods.

关键词： Genetic counseling Prenatal diagnosis Chorionic villus sampling Amniocentesis array comparative genomic hybridization Noninvasive prenatal testing