1.Left atrial appendage flow velocity in rheumatic mitral stenosis.
He HUANG ; Hong TANG ; Shu-hua LIU ; Li RAO ; Huan-qiong ZENG
Chinese Medical Journal 2004;117(2):299-300
2.Cytogenetic and molecular genetic analysis of the amniotic fluid cells of a fetus with pseudodicentric isochromosome 22 resulting in partial tetraploidy of 22q.
Yanyan SHEN ; Fding7@foxmail.com. ; Hui KONG ; Huan ZENG ; Qiong WU ; Jiayan CHEN ; Dongxing ZHOU ; Jian ZHANG ; Yunsheng GE ; Feng DING
Chinese Journal of Medical Genetics 2018;35(2):272-275
OBJECTIVETo diagnose chromosomal abnormalities in amniotic fluid cells by combining karyotyping and single nucleotide polymorphism array (SNP-array) analysis, and to explore the application of SNP-array in routine clinical practice.
METHODSConventional G banding was used to karyotype a fetal amniotic fluid sample and the corresponding peripheral blood samples from the parents, followed by SNP-array analysis of the fetal genomic DNA from the amniotic fluid.
RESULTSThe karyotype of the amniocytes was 47, XX, +mar. The marker chromosome was further identified as psu idic (22) (q11.2) by SNP-array analysis, revealing tetraploidy of a 1.7 Mb fragment in 22q11.1-q11.2 interval that involves the critical region for Cat eye syndrome.
CONCLUSIONA rare chromosomal abnormality was identified by combining conventional G banding and SNP-array. The high resolution SNP-array could provide more detailed information for determining the origin of chromosomal abnormalities.
Adult ; Amniotic Fluid ; cytology ; Aneuploidy ; Chromosome Disorders ; genetics ; Chromosomes, Human, Pair 22 ; genetics ; Eye Abnormalities ; genetics ; Female ; Humans ; Isochromosomes ; Karyotyping ; Polymorphism, Single Nucleotide ; Pregnancy ; Tetraploidy
3.Identification of origins of marker chromosomes using fluorescence in situ hybridization.
Qiong WU ; Yu-lin ZHOU ; Hui KONG ; Huan ZENG ; Hui-nan WU ; Yan-yan SHENG ; Chao-yi YANG ; Yun-sheng GE ; Mei-jiao CAI ; Ting-ting HUANG ; Jia-yan CHEN ; Xia-olu CHEN ; Dong-xing ZHOU ; Xin-gli HUANG
Chinese Journal of Medical Genetics 2013;30(4):415-419
OBJECTIVETo assess the value of fluorescence in situ hybridization (FISH) and bacterial artificial chromosome FISH (BAC-FISH) for the diagnosis for patients with marker chromosomes.
METHODSSixteen patients with marker chromosomes were analyzed with technologies including GTG-banding, Q-banding, multiplex FISH and BAC-FISH.
RESULTSThe marker chromosomes in the 16 patients were verified as der(Y) (2 cases), psu dic(Y) (1 case), psu dic(15) (1 case), dic(15) (1 case), del(Y) (1 case), r(X) (5 cases), i(14 or 22) (2 cases), i(18) (1 case).
CONCLUSIONFISH and BAC-FISH can both verify the origin of marker chromosomes and provide accurate information for the diagnosis and treatment of patients.
Adolescent ; Adult ; Child ; Chromosome Aberrations ; Female ; Genetic Diseases, Inborn ; diagnosis ; genetics ; Genetic Markers ; genetics ; Humans ; In Situ Hybridization, Fluorescence ; methods ; Male ; Young Adult
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