[Phenotypic and genetic analysis of a sibpair with partial deletion of SATB2 gene caused by 2q33.1 microdeletion].

Objective: To analyze the genotype and phenotype of a sibpair with partial deletion of SATB2 gene caused by 2q33.1 microdeletion.

Methods: Both children have featured mental retardation and development delay, and were subjected to karyotyping, single nucleotide microarray (SNP array) and real-time fluorescence quantitative PCR analysis.

[Application of BACs-on-Beads and karyotyping for the prenatal diagnosis of 1371 pregnant women with a high risk].

Objective: To assess the value of combined BACs-on-Beads (BoBs) and chromosomal karyotyping for the diagnosis of women with high-risk pregnancy.

Methods: For 1371 women with singleton pregnancy and various indications for prenatal diagnosis, karyotyping and BoBs were simultaneously applied on their amnionic fluid samples.

Results: In total 23 cases of trisomy 21, 11 cases of trisomy 18, 5 cases of sex chromosome aneuploidies, 6 cases of microdeletions/microduplications, 2 cases of chimeric chromosomes and 1 case of structural chromosomal abnormality were detected by the BoBs assay, among which the 6 microdeletions/microduplications were not detected by karyotyping.