Twenty-one pathogenic variants found in clinically relevant genes, with an enrichment in mismatch repair genes.

Turner syndrome is a chromosomal disorder that affects females only. Read about its causes, signs, diagnosis, treatment, and possible complications.

Turner syndrome (monosomy X), in which a missing or damaged X chromosome in girls translates to a shorter height, increased risk of infertility, and an increased risk of heart problems. Klinefelter ...

Editor—Cryptic translocations usually involve the telomeric regions of chromosomes and are not easy to detect by means of conventional cytogenetics.1 2 The published cryptic translocations have been ...

We describe a case of X monosomy associated with a maternally inherited t (13;14) Robertsonian translocation in a girl with Turner syndrome. The girl's X chromosome was demonstrated to be maternally ...

Monosomy X (45,X) is associated with Turner syndrome and pregnancy loss in humans, but the underlying mechanisms remain unclear. We therefore undertook an exploratory study of the transcriptomic ...

Monosomy 7 arises as a recurrent chromosome aberration in donor cell leukemia after hematopoietic stem cell transplantation. We report a new case of donor cell leukemia with monosomy 7 following ...

Monosomy could have altered the expression of any genes, not just those on the affected chromosomes. We aimed to find any distinct and functionally interpretable patterns of adjustment that might ...

Genetics and Genomics Evolutionary Biology Positive epistasis for fitness under monosomy: Loss of ribosomal protein stoichiometry reduces the effects of other perturbations ...

Objective We described a special case of near-negative chromosome mosaicism in chorionic villi but complete monosomy X in amniotic fluid. Methods Chorionic v ...