1.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
Result Analysis
Print
Save
E-mail