Sex chromosome trisomies (SCTs) are genetic conditions that occur when an individual has an extra sex chromosome, leading to variations such as 47,XXX (Triple X syndrome), 47,XXY (Klinefelter ...

which includes the absence of menstruation in girls by the age of 15. 2 Illustration of Turner Syndrome, a genetic condition characterized by the loss or abnormality of one X chromosome ...

Created with Sketch. Angelman syndrome is caused by an over-expression of paternal imprinted genes and an under-expression of maternal ones on chromosome 15. Children with this genetic disorder ...

Science has revealed some of the secrets of the X chromosome, but many remain. In humans, female cells contain two X ...

Angelman Syndrome is a rare genetic disorder caused by UBE3A gene mutations, leading to developmental delays, speech issues, ...

DiGeorge syndrome, a 22q11.2 deletion syndrome, is caused when a small portion of chromosome 22 is missing. The condition can occur in individuals born from a parent with the dominant contiguous ...

Figure 1: Overview of the imprinted domain in human 15q11–q13 and the PWS family studied. We isolated mouse oocytes following hormonal stimulation as described 19. We isolated mouse spermatozoa ...

Wolf-Hirschhorn syndrome is a genetic disorder that can lead to birth defects and developmental problems. It results in distinctive facial features, short stature, intellectual disability, and ...

Female mammals typically carry two X chromosomes — one from each parent — and a new study suggests that the maternal X is ...

Uncovering the role of Y chromosome genes in male fertility in mice Date: January 23, 2025 Source: The Francis Crick Institute Summary: Researchers have uncovered which genes on the Y chromosome ...

Professor B Franco, Telethon Institute of Genetics and Medicine (TIGEM), Via Pietro Castellino 111, 80131 Naples, Italy; franco{at}tigem.it If you wish to reuse any ...