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Updated: Mar 15, 2026
FISH for Pre-implantation Genetic Diagnosis
Published on: February 23, 2011
[Prenatal diagnosis of a Pallister-Killian syndrome case through analysis of a supernumerary chromosome using single
Suping Li1, Huaxiang Shen, Yuxia Jin
1Center of Prenatal Diagnosis of Jiaxing Maternal and Child Health Hospital, Jiaxing, Zhejiang 314000, China.
Objective:
To 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.
Methods:
The 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).
Results:
The 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.
Conclusion:
The 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.
Related Concept Videos
01:17Karyotyping
01:05Single Nucleotide Polymorphisms-SNPs