Characterization of a complex chromosomal rearrangement in a girl with PURA syndrome
Prenatal diagnosis of ventricular septal defect and trisomy 7q11.23q21.3 in two fetuses: A case report
A rare case of trisomy 11q23.3-11q25 and trisomy 22q11.1-22q11.21
Partial duplication of the long arm of chromosome 11 and the partial trisomy of 22q are uncommon karyotypic abnormalities. Here, we report the case of a 6-year-old girl who showed partial trisomy of 11q and 22q, as a result of a maternal balanced reciprocal translocation (11;22), and exhibited dysmorphic features, severe intellectual disability, brain malformations, and speech delay related to this unique chromosomal abnormality. Array comparative genomic hybridization (array CGH) revealed a gain in copy number on the long arm of chromosome 11, spanning at least 18.22 Mb.
Physical mapping of 18S and 5S rDNA loci and histone H3 gene in grasshopper species of the subfamily Gomphocerinae (Acrididae)
In this study, fluorescence in situ hybridization (FISH) analysis was used to determine and compare the numbers and chromosomal locations of two multigene families (rDNA and histone H3) in four Neotropical species of gomphocerine grasshoppers. FISH using the 18S rDNA probe identified a single site on the S9 chromosome of Amblytropidia sp and Cauratettix borelli, a single site on chromosome M6 of Compsacris pulcher, and two sites (chromosomes L1 and L2) in Orphulella punctata.
Correlation of EGFR gene amplification with invasion and metastasis of non-small cell lung cancer
The aim of this study was to explore epidermal growth factor receptor (EGFR) gene amplification and its relationship with cancer invasion and metastasis in non-small cell lung cancer (NSCLC). EGFR amplification in 45 patients with NSCLC and 15 subjects with normal lung tissues was detected by fluorescence in situ hybridization. The relationship between EGFR amplification and the clinicopathologic features of NSCLC was analyzed.