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10 Ιουν 2019 · Females have two X chromosomes (XX), and males have one X and one Y chromosome (XY). Disorders caused by chromosomal abnormalities can be either numerical or structural.
24 Απρ 2023 · A chromosomal abnormality, or chromosomal aberration, is a disorder characterized by a morphological or numerical alteration in single or multiple chromosomes, affecting autosomes, sex chromosomes, or both.
If the X chromosome is absent altogether, the individual will not develop in utero. Several errors in sex chromosome number have been characterized. Individuals with three X chromosomes, called triplo-X, are phenotypically female but express developmental delays and reduced fertility.
3 Οκτ 2024 · Comparison of diagnostic rates between XXY/KS and XYY identified significant differences for anxiety disorders, which were overrepresented in XXY/KS (X 2 = 10.53, p = 0.001). ASD was nominally more prevalent in XXY/KS, but did not survive correction for multiple tests (X 2 = 6.77, p = 0.01).
22 Ιουλ 2021 · The x axis refers to the chromosomal position, the y axis refers to the significance of the gene-based association test as a −log 10 (P value), the horizontal dashed line denotes X-chromosome ...
This mini review discusses the nature of the genes on the human Y chromosome and identifies two general categories of genes: those sharing dosage-sensitivity functions with their X homologues and those with testis-specific expression and functions.
Stern observed several X-linked phenotypes that were associated with a structurally unusual and dissimilar X chromosome pair in which one X was missing a small terminal segment, and the other X was fused to a piece of the Y chromosome.
