Prenatal diagnosis of a Pallister-Killian syndrome case through analysis of a supernumerary chromosome using single nucleotide polymorphism array.
- VernacularTitle:应用单核苷酸多态性-微阵列技术产前诊断胎儿标记染色体确诊 Pallister-Killian综合征一例
- Author:
Suping LI
1
;
Huaxiang SHEN
;
Yuxia JIN
;
Xiaodan LIU
;
Qinhao SONG
;
Zhengyou MIAO
Author Information
- Publication Type:Case Reports
- MeSH: Adult; Chromosome Aberrations; Chromosome Banding; Chromosome Disorders; diagnostic imaging; embryology; genetics; Chromosomes, Human, Pair 12; genetics; Female; Fetus; abnormalities; diagnostic imaging; metabolism; Genome-Wide Association Study; methods; Humans; In Situ Hybridization, Fluorescence; Karyotype; Karyotyping; Oligonucleotide Array Sequence Analysis; methods; Polymorphism, Single Nucleotide; Pregnancy; Ultrasonography, Prenatal; methods
- From: Chinese Journal of Medical Genetics 2016;33(5):682-685
- CountryChina
- Language:Chinese
-
Abstract:
OBJECTIVETo explore the origin of a supernumerary small marker chromosome (sSMC) in a fetus, and to assess the feasibility of single nucleotide polymorphism array (SNP-array) for prenatal diagnosis.
METHODSThe fetal sample was subjected to karyotyping analysis. The identified sSMC was subjected to genome-wide scan using a SNP microarray chip. The results were validated with fluorescence in situ hybridization (FISH).
RESULTSThe karyotype of the fetus was determined as 47,XX,+mar, which was verified by SNP microarray chip analysis as a 34.6 Mb duplication in 12p13.33p11.1. FISH analysis confirmed that the sSMC has originated from chromosome 12p.
CONCLUSIONThe karyotype of the fetus was determined as 47,XX,+i(12)(p10). Tetrasomy 12p is reported to be a marker for Pallister-Killian syndrome, which may result in multi-system anomalies. SNP-array analysis can simultaneously detect microdeletions and microduplications, which may be used for prenatal diagnosis of suspected cases.
