生物学
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Previously unreported translocation (14;15)(q32; q11.2) observed in B-cell acute lymphoblastic leukemia: a case report
作者Maliha Naz; Jawad Hassan; Neelum Mansoor
作者单位1. Department of Cytogenetics, Indus Hospital & Health Network, Karachi, Pakistan; 2. Department of Hematology, Indus Hospital & Health Network, Karachi, Pakistan
Clinical presentation and genotype-phenotype correlation of a novel pure duplication of 6p25.2–p22.3: a case report and literature review
作者Huamei Tang; Xiaoqing Xu; Wei Wu; Yuxue Wang; Yuying He; Junying Qiu; Tong Ou
作者单位1. Medical Laboratory, Shenzhen Luohu People’s Hospital, Shenzhen, China; 2. Prenatal Diagnostic Center, Shenzhen Luohu People’s Hospital, Shenzhen, China; 3. Medical Laboratory Center, Shenzhen Luohu Hospital Group, Shenzhen, China
Identification of tubulin gene variants in patients with dandy-walker malformation: expanding the spectrum of tubulinopathies
作者Katsuya Ueno; Koichiro Higasa; Mikio Hayashi; Haruna Isozaki; Mayuko Miyata; Nobuaki Naito; Yi Li; Junichi Takeda; Masahiro Nonaka
作者单位1. Department of Neurosurgery, Kansai Medical University, Hirakata, Japan; 2. Department of Genome Analysis, Institute of Biomedical Science, Kansai Medical University, Hirakata, Japan; 3. Department of Physiology, Kansai Medical University, Hirakata, Japan
A fetus with paternal uniparental isodisomy of chromosome 3: genetic analysis and prenatal diagnosis following a positive NIPS with IUGR
作者Fang Zhang; ShanShan Ma; Yongan Wang; Shuai Men; Rong Zhang; Ting Yin
作者单位1. Department of Prenatal Diagnosis, Lianyungang Maternal and Child Health Hospital, Lianyungang, People’s Republic of China
Combined optical genome mapping and cnv-seq identify complex Y-chromosome rearrangements and ectopy in 46,XX testicular disorder of sex development
作者Hai Wang; Hao Wang; Zitong Xu; Penglong Chen; Xianjue Zheng; Haojie Pan; Hongping Zhang; Jiayong Zheng
作者单位1. Department of Medical Genetics, The Third Clinical Institute Affiliated to Wenzhou Medical University/The Third Affiliated Hospital of Shanghai University/Wenzhou People’s Hospital/Wenzhou Maternal and Child Health Care Hospital, Wenzhou, China; 2. Center for Reproductive Medicine, Zhejiang University School of Medicine Affiliated Sir Run Run Shaw Hospital, Hangzhou, China; 3. Lishui Maternal And Child Health Care Hospital, Lishui, China; 4. Wenzhou City Key Laboratory of Gynecology and Obstetrics, Wenzhou, China
Chromosomal abnormalities and copy number variations in fetuses with ventriculomegaly: a multicenter retrospective study
作者Anh Huu Duc Nguyen; Phan Duc Tran; Phuc Hong Dinh; Trang Thi Dao; Ngoc Thi Minh Nguyen; Anh Thi Lan Luong; Lan Thi Ngoc Hoang; Phuong Thi Kim Doan; Hung Trong Mai; Linh Thuy Dinh; Vuong The Pham; Giang Thi Thu Phan; Thang Duc Bui; Linh Thuy Tran; Cuong Danh Tran
作者单位1. Hanoi Medical University, Hanoi, Vietnam; 2. Hanoi Medical University Hospital, Hanoi, Vietnam; 3. Phenikaa University, Hanoi, Vietnam; 4. National Hospital of Obstetrics and Gynecology, Hanoi, Vietnam; 5. Hanoi Obstetrics and Gynecology Hospital, Hanoi, Vietnam
Optical genome mapping uncovers disease-defining variants in an adult T-lymphoblastic leukemia and impacts prognosis
作者Amanda M. Maxfield; Michelle A. Bickford; Kyle A. Tonseth; Jing Bao; Farzana Murad; Devon N. Wilson; Lauren M. Wainman; John M. Hill; Liam L. Donnelly; Prabhjot Kaur; Laura J. Tafe; Jeremiah X. Karrs; Wahab A. Khan
作者单位1. Geisel School of Medicine at Dartmouth, Hanover, USA; 2. Department of Pathology and Laboratory Medicine Dartmouth Health, Lebanon, USA; 3. Department of Hematology/Oncology Dartmouth Health, Lebanon, USA
Prenatal diagnosis and genetic counseling of a paternally inherited chromosome 5p13.3p13.2 microduplication in a Chinese family
作者Wei Wang; Lin Zhan; Lu Xu; Pei Leng
作者单位1. The Third Ward of Neurology Department, Renmin Hospital, Hubei University of Medicine, Shiyan, PR China; 2. Wuhan Canvest Biotechnology Co., Ltd., Wuhan, PR China; 3. Center of Reproductive Medicine, Wuhan Children’s Hospital, Tongji Medical College, Huazhong University of Science and Technology, Wuhan, PR China
A ten-year follow up case report on monochorionic dizygotic twins with confined blood chimerism of 47,XY,+21/46,XX
作者Mengjie Shen; Huaying Ren; Ting Chen; Ke Chen
作者单位1. Chongqing Key Laboratory of Human Embryo Engineering, Center of Reproductive Medicine, Women and Children’s Hospital of Chongqing Medical University, Chongqing, China; 2. Chongqing Health Center for Women and Children, Chongqing, China
Prenatal diagnosis, genetic analysis, and pregnancy outcomes of fetuses with mosaic isodicentric Y chromosomes
作者Tieli Gao; Hua Wei; Yawen Zheng; Ying Xiao; Moling Zheng; Shurong Hong
作者单位1. Department of Molecular Genetic Center, Zhangzhou Affiliated Hospital of Fujian Medical University, Zhangzhou, China
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