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Monosomy. Schematic karyogram of a human, showing the normal diploid karyotype. It shows annotated bands and sub-bands as used for the nomenclature of chromosome abnormalities including partial monosomies. It shows 22 homologous chromosomes, both the female (XX) and male (XY) versions of the sex chromosome (bottom right), as well as the ...
Henry Turner. Turner syndrome (TS), also known as 45,X, or 45,X0, is a genetic disorder in which a females cells have only one X chromosome or are partially missing an X chromosome (sex chromosome monosomy) leading to the complete or partial deletion of the pseudoautosomal regions (PAR1, PAR2) in the affected X chromosome. [ 2 ][ 6 ][ 7 ] Most ...
Duchenne muscular dystrophy. P – Point mutation, or any insertion/deletion entirely inside one gene. D – Deletion of a gene or genes. Dup - Duplication of a gene or genes. C – Whole chromosome extra, missing, or both (see chromosome abnormality) T – Trinucleotide repeat disorders: gene is extended in length.
A Barr body (named after discoverer Murray Barr) [1] or X-chromatin is an inactive X chromosome. In species with XY sex-determination (including humans), females typically have two X chromosomes, [2] and one is rendered inactive in a process called lyonization. Errors in chromosome separation can also result in male and female individuals with ...
The human Y chromosome showing the SRY gene which codes for a protein regulating sexual differentiation. Sexual differentiation in humans is the process of development of sex differences in humans. It is defined as the development of phenotypic structures consequent to the action of hormones produced following gonadal determination. [1]
Confined placental mosaicism (CPM) represents a discrepancy between the chromosomal makeup of the cells in the placenta and the cells in the fetus. CPM was first described by Kalousek and Dill in 1983. [ 1 ] CPM is diagnosed when some trisomic cells are detected on chorionic villus sampling and only normal cells are found on a subsequent ...
Chromosome abnormality. A chromosomal abnormality, chromosomal anomaly, chromosomal aberration, chromosomal mutation, or chromosomal disorder is a missing, extra, or irregular portion of chromosomal DNA. [1][2] These can occur in the form of numerical abnormalities, where there is an atypical number of chromosomes, or as structural ...
Polyploidy is the result of whole-genome duplication during the evolution of species. It may occur due to abnormal cell division, either during mitosis, or more commonly from the failure of chromosomes to separate during meiosis or from the fertilization of an egg by more than one sperm. [ 1 ]