Klinefelter Syndrome and Turner Syndrome Karyotypes

1. The Protenor mode of sex determination, where the heterogametic sex (the male in this example) is XO and produces gametes with or without the X chromosome. The chromosome composition of the offspring determines its sex.

2. The Lygaeus mode of sex determination, where the heterogametic sex (again, the male in this example) is XY and produces gametes with either an X or a Y chromosome. In both cases, the chromosome composition of the offspring determines its sex.

3. The traditional human karyotypes derived from a normal female and a normal male. Each contains 22 pairs of autosomes and two sex chromosomes. The female (a) contains two identical X chromosomes, while the male (b) contains one X and one Y chromosome (the Y is often referred to as a heterochromosome).

4. Klinefelter Syndrome and Turner Syndrome Karyotypes

5. Klinefelter Syndrome Turner Syndrome

6. Klinefelter’s syndrome, is undoubtedly one of the most severe genetic diseases. In this syndrome, the patient has a chromosome abnormality: 47 chromosomes (instead of 46), which means chromosome aneuploidy! There is an extra sex chromosome (X or Y). This can cause a variety of behavioural and physical troubles. Doctor Harry Klinefelter first found and described it (in 1942). The frequency of Klinefelter Syndrome is 1 every 500~1000 males. The most important symptom is the male infertility. Some other symptoms are the presence of small testes, inability to produce sperms, a very characteristic rounded body type. Thepatients can have difficulties in reading, writing, or even language problems One of the most successful ways of treating this severe disorder is by using testosterone injections,very effective when it takes place during the first years of the patient’s life. When the disorder is diagnosed during the adulthood, the testosterone treatment is not so successful.

7. Turner syndrome encompasses several conditions, of which monosomy X (absence of an entire sex chromosome, the Barr body) is most common. Typical females have two X chromosomes, but in Occurring in 1 in 2000[3] – 1 in 5000 phenotypicfemales,[4] the syndrome manifests itself in a number of ways, such as short stature, swelling, broad chest, low hairline, low-set ears, and webbed necks.Girls with Turner syndrome typically experience gonadal dysfunction (non-working ovaries), which results in amenorrhea (absence of menstrual cycle) and sterility. Concurrent health concerns are also frequently present, including congenital heart disease, hypothyroidism (reduced hormone secretion by the thyroid), diabetes, etc. A specific pattern of cognitive deficits is often observed, with particular difficulties in visuospatial, mathematical, and memory areas.[7]

8. Turner's syndrome Cardiovascular Bicuspid aortic valve Coarctation of the aorta Thoracic aortic aneurysm (aortic root dilatation) Skeletal Short stature Short fourth metacarpal/matatarsal bone may be unusually short (+/- short 3rd and 5th). Osteoporosis (due to lack of estrogen) Scoliosis Reproductive Women with Turner syndrome are almost universally infertile.

9. XYY syndrome Not to be confused with XXY (Klinefelter's syndrome). XYY syndrome is an aneuploidy (abnormal number) of the sex chromosomes in which a humanmale receives an extra Y-chromosome, giving a total of 47 chromosomes instead of the more usual 46. This produces a 47,XYYkaryotype. This condition is usually asymptomatic and affects 1 in 1000 male births. Some medical geneticists question whether the term "syndrome" is appropriate for this condition because its phenotype is normal and the vast majority (an estimated 97% in the UK) of 47,XYY males do not know their karyotype.[1

11. In June 1970, The XYY Man was published—the first of seven Kenneth Royce spy novels whose fictional tall, intelligent, nonviolent XYY hero was a reformed expert cat burglar recruited by British intelligence for dangerous assignments—and later adapted into a thirteen-episode British summer television series broadcast in 1976 and 1977.[46] In other fictional television works, a January 1971 episode "By the Pricking of My Thumbs ..." of the British science fiction TV series Doomwatch featured a 16-year-old XYY boy expelled from school because of his genetic condition,[47] a November 1993 episode "Born Bad" of the American police procedural TV series Law & Orderportrayed a 14-year-old XYY sociopathic murderer,[48] and the May 2007 season finale episode "Born To Kill" of the American police procedural TV series CSI: Miami depicted a 34-year-old XYY serial killer.[49] The false stereotype of XYY boys and men as violent criminals has also been used as a plot device in the horror filmsIl gatto a nove code in February 1971 (dubbed into English as The Cat o' Nine Tails in May 1971) and Alien³ in May 1992.[30][31]

12. In December 1970, at the annual meeting of the American Association for the Advancement of Science (AAAS), its retiring president, geneticist H. Bentley Glass, cheered by the legalization of abortion in New York, envisioned a future where pregnant women would be required by the government to abort XYY "sex deviants". Mischaracterization of the XYY genetic condition was quickly incorporated into high school biology textbooks. and medical school psychiatry textbooks, where misinformation still persists decades later.

13. In August 1976, Science published a study by Educational Testing Service psychologist Herman Witkin and colleagues that screened the tallest 16% of men (over 6'0" in height) born in Copenhagen from 1944–1947 for XXY and XYY karyotypes, and found an increased rate of minor criminal convictions for property crimes among sixteen XXY and twelve XYY men may be related to the lower intelligence of those with criminal convictions, but found no evidence that XXY or XYY men were inclined to be aggressive or violent.

15. Triple X syndrome Triple X syndrome is a form of chromosomal variation characterized by the presence of an extra X chromosome in each cell of a human female. A female affected by triple-X syndrome has an XX pair of chromosomes, as well as an additional chromosome, resulting in the formation of XXX. A mosaic form also occurs where only a percentage of body cell contain XXX while the remainder carry XX. The extent to which an individual is affected by the condition will depend upon the proportion of XXX to XX throughout. The condition is also known as triplo-X, trisomy X, XXX syndrome, and 47,XXX aneuploidy. Triple X results during division of a parent's reproductive cells and occurs about once in every 1,000 births. Unlike most other chromosomal conditions (such as Down syndrome), there is usually no distinguishable difference to the naked eye between women with triple X and the rest of the female population.

16. Occurrence of Barr bodies in various human karyotypes, where all X chromosomes except one (N - 1) are inactivated.

17. MORE RARE SYNDROMES XXXX syndrome (also called tetrasomy X, quadruple X, or 48, XXXX) is a rare chromosomal disorder caused by the presence of four X chromosomes instead of two X chromosomes. This condition occurs only in females, as there are no Y chromosomes present. Tetrasomy X was first described in 1961, and since then approximately 100 cases have been reported worldwide. Approximately 60 females have been described in medical literature with this condition Symptoms of tetrasomy X are highly variable, ranging from relatively mild to severe. XXXXX syndrome (also called pentasomy X or 49,XXXXX) is the presence of three additional X chromosomes. Diagnosis is done by karyotyping. Approximately 25 females have been described in medical literature worldwide with this extremely rare condition. XXXXX syndrome causes mental, growth, and motor retardation.

18. The ratios of X chromosomes to sets of autosomes, and the resultant sexual morphology in Drosophila melanogaster. The normal diploid male chromosome composition is shown as a reference on the left (XY/2A).