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46,XX/46,XY chimeric or mosaic is associated with a wide spectrum of different physical presentations, with cases ranging from having a completely normal male or female phenotype [7] [8] [9] to some cases having ovotesticular syndrome. Due to this variation, genetic testing is the only way to reliably make a diagnosis.
Human cytogenetics began in 1956 when it was discovered that normal human cells contain 46 chromosomes. However, the first microscopic observations of chromosomes were reported by Arnold, Flemming, and Hansemann in the late 1800s. Their work was ignored for decades until the actual chromosome number in humans was discovered as 46.
XX male syndrome, also known as de la Chapelle syndrome, is a rare intersex condition in which an individual with a 46,XX karyotype develops a male phenotype. [2] Synonyms for XX male syndrome include 46,XX testicular difference of sex development (or 46,XX DSD) [3] [4] [5] [6]
The International System for Human Cytogenomic Nomenclature (ISCN; previously the International System for Human Cytogenetic Nomenclature) is an international standard for human chromosome nomenclature, which includes band names, symbols, and abbreviated terms used in the description of human chromosome and chromosome abnormalities.
The most common presentation of 45,X/46,XY karyotype is phenotypically normal male, next being genital ambiguity. [ 8 ] There is a range of chromosomal anomalies within 45,X/46,XY where the variations are very complex, and the actual result in living individuals is often not a simple picture. [ 1 ]
A metaphase cell positive for the BCR/ABL rearrangement using FISH. Cytogenetics is essentially a branch of genetics, but is also a part of cell biology/cytology (a subdivision of human anatomy), that is concerned with how the chromosomes relate to cell behaviour, particularly to their behaviour during mitosis and meiosis. [1]
Klinefelter syndrome is not an inherited condition. The extra X chromosome comes from the mother in approximately 50% of the cases. Maternal age is the only known risk factor. Women at 40 years have a four-times-higher risk of a child with Klinefelter syndrome than women aged 24 years. [15] [35] [36]
48,XXYY syndrome is a condition related to the X and Y chromosomes (the sex chromosomes). People normally have 46 chromosomes in each cell.Two of the 46 chromosomes, known as X and Y, are called sex chromosomes because they help determine whether a person will develop male or female sex characteristics.