Cytogenetic and molecular genetic analysis of the amniotic fluid cells of a fetus with pseudodicentric isochromosome 22 resulting in partial tetraploidy of 22q.
- Author:
Yanyan SHEN
1
,
2
;
Fding7@foxmail.com.
;
Hui KONG
;
Huan ZENG
;
Qiong WU
;
Jiayan CHEN
;
Dongxing ZHOU
;
Jian ZHANG
;
Yunsheng GE
;
Feng DING
Author Information
- Publication Type:Case Reports
- MeSH: 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
- From: Chinese Journal of Medical Genetics 2018;35(2):272-275
- CountryChina
- Language:Chinese
-
Abstract:
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.
