Male-to-female 64,XY sex reversal is a frequently reported chromosome abnormality in horses.

Background: Carrier status of a structural balanced chromosome abnormality is associated with recurrent miscarriage.

This apparently characteristic chromosome abnormality has not been previously described.

In one tumor, this was the sole chromosome abnormality present.

Partial trisomy 9p is a frequently described chromosome abnormality.

The chromosome abnormality was detected by amniocentesis and was confirmed postnatally in cultured skin fibroblasts.

She also had a distinctive chromosome abnormality in blood cells but not in other tissues.

This chromosome abnormality may therefore be underdiagnosed.

Microduplication of chromosome 17p13.1 is a rarely reported chromosome abnormality associated with neurodevelopmental delays.

This chromosome abnormality was detected in cultured amniocytes from a 20-week pregnancy presenting with intrauterine growth retardation and echogenic bowel.

However, an interstitial deletion of the long arm of chromosome 3 was found, as the sole chromosome abnormality, in three cases.

Univariate analysis showed that age, chromosome abnormality, percentage of bone marrow blast cells and number of cytopenias were significantly related to prognosis.

This structural chromosome abnormality is characteristic of this specific disease and occurs often as the only chromosome abnormality in the malignant cells.

It is concluded that most of CLL patients have chromosome abnormality, and the number abnormality are more frequent than the structural aberrations.

In 37 cases with no karyotypic or cryptic chromosome abnormality, sequence analysis of the PAX6 gene was performed.

Identifying the position of the breakpoints in this rearrangement provides the means to search for candidate genes rearranged by this highly specific structural chromosome abnormality.