An advanced genomic analysis of a multigenerational family is providing new knowledge about genetic mutations and their ...

We have identified an extended family where the proband, a child with moderate intellectual disability as well as severe conduct disturbance, was found to have a pericentric inversion of chromosome 3.

The present report identified a pericentric inversion of chromosome 11 that segregated with acromegaloid features and other abnormalities in one family. This finding may assist in the identification ...

Females, possessing two X chromosomes, are typically carriers ... They include point mutations, where one DNA base is altered, and deletions, insertions, or inversions of longer segments. The ...

These rearrangements should be interleaved and approximately half of them should be inversion-type aberrations ... including double minutes, ring chromosomes and giant markers. OGM was performed on ...

16 cases had balanced translocation or inversion and 15 had normal ultrasound examinations. Thirteen had unbalanced changes and 10 of these also had abnormal scans. Due to referral reasons (e.g.

Credit: Illustration by Julia Wytrazek / Getty Images The Y chromosome can disappear over time in human males, which may introduce a number of health problems. While the exact trigger for such ...

After inversion by CRISPR/Cas, the epigenetic state of plant chromosomes remains stable Jan 29, 2025 Variation matters: Genetic effects in interacting species jointly determine ecological outcomes ...

The results have implications for the stoichiometric control of gene expression, the progression of aneuploidy in cancer, the evolution of sex chromosomes, the role of the triploid block in polyploid ...