Recurring germline mosaicism in a family due to reversion of an inherited derivative chromosome 8 from an 8;21 translocation with interstitial telomeric sequences.

BACKGROUND: Mosaicism for chromosomal structural abnormalities, other than marker or ring chromosomes, is rarely inherited. METHODS: We performed cytogenetics studies and breakpoint analyses on a family with transmission of mosaicism for a derivative chromosome 8 (der(8)), resulting from an unbalanced translocation between the long arms of chromosomes 8 and 21 over three generations. RESULTS: The proband and his maternal half-sister had mosaicism for a der(8) cell line leading to trisomy of the distal 21q, and both had Down syndrome phenotypic features. Mosaicism for a cell line with the der(8) and a normal cell line was also detected in a maternal half-cousin. The der(8) was inherited from the maternal grandmother who had four abnormal cell lines containing the der(8), in addition to a normal cell line. One maternal half-aunt had the der(8) and an isodicentric chromosome 21 (idic(21)). Sequencing studies revealed microhomologies at the junctures of the der(8) and idic(21) in the half-aunt, suggesting a replicative mechanism in the rearrangement formation. Furthermore, interstitial telomeric sequences (ITS) were identified in the juncture between chromosomes 8 and 21 in the der(8). CONCLUSION: Mosaicism in the proband, his half-sister and half-cousin resulting from loss of chromosome 21 material from the der(8) appears to be a postzygotic event due to the genomic instability of ITS and associated with selective growth advantage of normal cells. The reversion of the inherited der(8) to a normal chromosome 8 in this family resembles revertant mosaicism of point mutations. We propose that ITS could mediate recurring revertant mosaicism for some constitutional chromosomal structural abnormalities.

Analysis of polarization features of human breast cancer tissue by Mueller matrix visualization.

Significance: Breast cancer ranks second in the world in terms of the number of women diagnosed. Effective methods for its early-stage detection are critical for facilitating timely intervention and lowering the mortality rate. Aim: Polarimetry provides much useful information on the structural properties of breast cancer tissue samples and is a valuable diagnostic tool. The present study classifies human breast tissue samples as healthy or cancerous utilizing a surface-illuminated backscatter polarization imaging technique. Approach: The viability of the proposed approach is demonstrated using 95 breast tissue samples, including 35 healthy samples, 20 benign cancer samples, 20 grade-2 malignant samples, and 20 grade-3 malignant samples. Results: The observation results reveal that element m23 in the Mueller matrix of the healthy samples has a deeper color and greater intensity than that in the breast cancer samples. Conversely, element m32 shows a lighter color and reduced intensity. Finally, element m44 has a darker color in the healthy samples than in the cancer samples. The analysis of variance test results and frequency distribution histograms confirm that elements m23, m32, and m44 provide an effective means of detecting and classifying human breast tissue samples. Conclusions: Overall, the results indicate that surface-illuminated backscatter polarization imaging has significant potential as an assistive tool for breast cancer diagnosis and classification.