Prenatal diagnosis of a case of Pallister-Killian syndrome.
10.3760/cma.j.issn.1003-9406.2020.07.017
- VernacularTitle:一例Pallister-Killian综合征的产前诊断
- Author:
Xiao SONG
1
;
Xueyan WANG
;
Guangming DENG
;
Na XI
;
Lan ZENG
;
Chun CHEN
;
Lingling SUN
;
Shengfang QIN
;
Yinghui REN
Author Information
1. Department of Medical Genetics and Prenatal Diagnosis, Women and Children's Health Care Hospital of Sichuan Province, Chengdu, Sichuan 610000, China. wanxueyang@163.com.
- Publication Type:Journal Article
- From:
Chinese Journal of Medical Genetics
2020;37(7):771-773
- CountryChina
- Language:Chinese
-
Abstract:
OBJECTIVE:To carry out G-banded chromosomal karyotyping and chromosomal microarray analysis (CMA) for a fetus featuring multiple malformations.
METHODS:The fetus was found to have increased nuchal thickness, generalized edema, asymmetric lower limbs, tetralogy of Fallot, nasal bone anomaly and cleft palate. Following amniocentesis, G-band karyotyping and CMA were carried out.
RESULTS:The fetus had a karyotype of 47,XX,+i(12)(p10) [14]/46,XX[6]. CMA has identified a 33.9 Mb duplication at 12p13.33-p11.1, which was suggestive of tetrasomy 12p.
CONCLUSION:Combined chromosomal karyotyping and CMA can delineate the origin of abnormal chromosomal fragments during prenatal diagnosis. The fetus was diagnosed with Pallister-Killian syndrome.
