Combined chromosomal microarray analysis and fluorescence in situ hybridization for prenatal diagnosis of two cases with Pallister-Killian syndrome.
10.3760/cma.j.issn.1003-9406.2019.06.009
- Author:
Ting WANG
1
;
Congmian REN
;
Li GUO
;
Jian LU
;
Hanbiao CHEN
;
Huamei HUANG
Author Information
1. Medical Genetics Center, Guangdong Women and Children Health Care Hospital, Guangzhou, Guangdong 511442, China. Email: kevinwtwt@163.com.
- Publication Type:Case Reports
- MeSH:
Chromosome Disorders;
diagnosis;
Chromosomes, Human, Pair 12;
Female;
Humans;
In Situ Hybridization, Fluorescence;
Microarray Analysis;
Mosaicism;
Pregnancy;
Prenatal Diagnosis
- From:
Chinese Journal of Medical Genetics
2019;36(6):571-573
- CountryChina
- Language:Chinese
-
Abstract:
OBJECTIVE:To carry out prenatal diagnosis for two cases of Pallister-Killian syndrome (PKS) using combined chromosomal microarray analysis (CMA) and fluorescence in situ hybridization (FISH).
METHODS:Umbilical cord blood was sampled from the two fetuses and subjected to G-banding chromosomal karyotyping, CMA and FISH assay.
RESULTS:Chromosomal karyotyping showed that the two fetuses were mos 47,XX,+i(12)(p10)[3]/46,XX[197] and mos 47,XY,+i(12)(p10)[5]/46,XY[95], respectively. CMA showed that both had carried duplication of 12p. The results of interphase FISH confirmed mosaicism of 12p tetrasomy. Combined with ultrasonographic findings, both fetuses were diagnosed as PKS.
CONCLUSION:Prenatal ultrasound examination, karyotype analysis of umbilical cord blood, G-banded chromosomal analysis, CMA and FISH may be used in conjunct for the prenatal diagnosis of PKS.
