Results 11 to 20 of about 287,317 (259)

Chromosomal Deletions in Myelodysplasia

Leukemia & Lymphoma, 1995
There are two major classes of genes implicated in human tumorigenesis, the oncogenes and the tumour suppressor genes. In haematological malignancies most emphasis has been placed upon the recurring translocations in which the juxtaposition of two gene sequences has resulted in the activation of an oncogene.
Boultwood, J, Fidler, C
openaire   +3 more sources

Heterozygous Deletion of the SHOX Gene Enhancer in two Females With Clinical Heterogeneity Associating With Skewed XCI and Escaping XCI

Frontiers in Genetics, 2019
Skewed X-chromosome inactivation (XCI) plays an important role in the phenotypic heterogeneity of X-linked disorders. However, the role of skewed XCI in XCI-escaping gene SHOX regulation is unclear.
Yixi Sun, Yixi Sun, Yixi Sun, Yuqin Luo, Yuqin Luo, Yuqin Luo, Yeqing Qian, Yeqing Qian, Yeqing Qian, Min Chen, Min Chen, Min Chen, Liya Wang, Liya Wang, Liya Wang, Hongge Li, Hongge Li, Hongge Li, Yu Zou, Minyue Dong, Minyue Dong, Minyue Dong   +21 more
doaj   +1 more source

A case of prenatal diagnosis of 18p deletion syndrome following noninvasive prenatal testing

Molecular Cytogenetics, 2019
Background Chromosome 18p deletion syndrome is a disease caused by the complete or partial deletion of the short arm of chromosome 18, there were few cases reported about the prenatal diagnosis of 18p deletion syndrome. Noninvasive prenatal testing (NIPT)
Ganye Zhao, Peng Dai, Shanshan Gao, Xuechao Zhao, Conghui Wang, Lina Liu, Xiangdong Kong   +6 more
doaj   +1 more source

Prenatal diagnosis of a maternal 7.22-Mb deletion at chromosome 4q32.2q32.3 by SNP array

Molecular Cytogenetics, 2020
Background Although Chromosomal microarray analysis (CMA) is a powerful diagnostic technology for detecting chromosomal copy number variants (CNVs), it detects numerous variants of unknown significance (VUSs), which poses a great challenge for genetic ...
Pingping Zhang, Yanmei Sun, Ping Huo, Haishen Tian, Jian Gao, Yali Li   +5 more
doaj   +1 more source

Y chromosome microdeletions in Chinese men with infertility: prevalence, phenotypes, and intracytoplasmic sperm injection outcomes

Reproductive Biology and Endocrinology, 2023
Background The incidence of Y chromosome microdeletions varies among men with infertility across regions and ethnicities worldwide. However, comprehensive epidemiological studies on Y chromosome microdeletions in Chinese men with infertility are lacking.
Dongjia Chen, Guoqing Fan, Xianqing Zhu, Qinyun Chen, Xuren Chen, Feng Gao, Zexin Guo, Peng Luo, Yong Gao   +8 more
doaj   +1 more source

Analysis of the Chromosomal Deletions [PDF]

International Journal of Human Genetics, 2011
Deletion involves loss of part of a chromosome resulting in monosomy for that segment of chromosome.
Leelavathy Nanjappa, Sayee Rajangam, Preetha Tilak, Rema Devi   +3 more
openaire   +2 more sources

Hypothyroidism and Chromosome 21 Deletion

Pediatric Neurology Briefs, 1996
A 12-year-old mentally retarded girl with a large deletion of the long arm of chromosome 21 and congenital hypothyroidism is reported from the Department of Clinical Genetics and Pediatrics, University Hospital, Uppsala, Sweden.
J Gordon Millichap
doaj   +1 more source

Exome-First Approach in Fetal Akinesia Reveals Chromosome 1p36 Deletion Syndrome

Case Reports in Obstetrics and Gynecology, 2019
Background. Fetal akinesia refers to a broad spectrum of disorders with reduced or absent fetal movements. There is no established approach for prenatal diagnosis of the cause of fetal akinesia.
Masatake Toshimitsu, Shinichi Nagaoka, Shuusaku Kobori, Maki Ogawa, Fumihiko Suzuki, Takema Kato, Shunsuke Miyai, Rie Kawamura, Hidehito Inagaki, Hiroki Kurahashi, Jun Murotsuki   +10 more
doaj   +1 more source

Application value of NIPT for uncommon fetal chromosomal abnormalities

Molecular Cytogenetics, 2020
Objective To investigate the clinical value of noninvasive prenatal testing (NIPT) for fetal chromosomal deletion, duplication, and sex chromosome abnormalities.
Lianli Yin, Yinghua Tang, Qing Lu, Aiping Pan, Mingfang Shi   +4 more
doaj   +1 more source

Novel maternal duplication of 6p22.3-p25.3 with subtelomeric 6p25.3 deletion: new clinical findings and genotype–phenotype correlations

Molecular Cytogenetics, 2023
Background Copy-number variants (CNVs) drive many neurodevelopmental-related disorders. Although many neurodevelopmental-related CNVs can give rise to widespread phenotypes, it is necessary to identify the major genes contributing to phenotypic ...
Liyu Zhang, Xiaoling Tie, Fengyu Che, Guoxia Wang, Ying Ge, Benchang Li, Ying Yang   +6 more
doaj   +1 more source