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A genetic disorder is a health problem caused by one or more abnormalities in the genome. It can be caused by a mutation in a single gene (monogenic) or multiple genes (polygenic) or by a chromosome abnormality. Although polygenic disorders are the most common, the term is mostly used when discussing disorders with a single genetic cause, either in a gene or chromosome. The mutation responsible can occur spontaneously before embryonic development, or it can be inherited from two parents who are carriers of a faulty gene or from a parent with the disorder. When the genetic disorder is inherited from one or both parents, it is also classified as a hereditary disease. Some disorders are caused by a mutation on the X chromosome and have X-linked inheritance. Very few disorders are inherited on the Y chromosome or mitochondrial DNA.
XYY syndrome, also known as Jacobs syndrome, is an aneuploid genetic condition in which a male has an extra Y chromosome. There are usually few symptoms. These may include being taller than average and an increased risk of learning disabilities. The person is generally otherwise normal, including typical rates of fertility.
A trisomy is a type of polysomy in which there are three instances of a particular chromosome, instead of the normal two. A trisomy is a type of aneuploidy.
The XY sex-determination system is a sex-determination system present in many mammals, including humans, some insects (Drosophila), some snakes, some fish (guppies), and some plants.
Sex differences in medicine include sex-specific diseases or conditions which occur only in people of one sex due to underlying biological factors ; sex-related diseases, which are diseases that are more common to one sex ; and diseases which occur at similar rates in males and females but manifest differently according to sex.
The Y chromosome is one of two sex chromosomes in therian mammals and other organisms. Along with the X chromosome, it is part of the XY sex-determination system, in which the Y is the sex-determining chromosome because the presence of the Y chromosome causes offspring produced in sexual reproduction to be of male sex. In mammals, the Y chromosome contains the SRY gene, which triggers development of male gonads. The Y chromosome is passed only from male parents to male offspring.
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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. Synonyms for XX male syndrome include 46,XX testicular difference of sex development
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XXYY syndrome is a sex chromosome anomaly in which males have two extra chromosomes, one X and one Y chromosome. Human cells usually contain two sex chromosomes, one from the mother and one from the father. Usually, females have two X chromosomes (XX) and males have one X and one Y chromosome (XY). The appearance of at least one Y chromosome with a properly functioning SRY gene makes a male. Therefore, humans with XXYY are genotypically male. Males with XXYY syndrome have 48 chromosomes instead of the typical 46. This is why XXYY syndrome is sometimes written as 48, XXYY syndrome or 48, XXYY. It affects an estimated one in every 18,000–40,000 male births.
49,XXXXY syndrome is an extremely rare aneuploidic sex chromosomal abnormality. It occurs in approximately 1 out of 85,000 to 100,000 males. This syndrome is the result of maternal non-disjunction during both meiosis I and II. It was first diagnosed in 1960 and was coined Fraccaro syndrome after the researcher.
The field of psychology has been greatly influenced by the study of genetics. Decades of research have demonstrated that both genetic and environmental factors play a role in a variety of behaviors in humans and animals. The genetic basis of aggression, however, remains poorly understood. Aggression is a multi-dimensional concept, but it can be generally defined as behavior that inflicts pain or harm on another.
Klinefelter syndrome (KS), also known as 47,XXY, is a chromosome anomaly where a male has an extra X chromosome. These complications commonly include infertility and small, poorly functioning testicles. These symptoms are often noticed only at puberty, although this is one of the most common chromosomal disorders, occurring in one to two per 1,000 live births. It is named after American endocrinologist Harry Klinefelter, who identified the condition in the 1940s, along with his colleagues at Massachusetts General Hospital.
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XYYY syndrome, also known as 48,XYYY, is a chromosomal disorder in which a male has two extra copies of the Y chromosome. The syndrome is exceptionally rare, with only twelve recorded cases. The presentation of the syndrome is heterogeneous, but appears to be more severe than its counterpart XYY syndrome. Common traits include borderline to mild intellectual disability, infertility, radioulnar synostosis, and in some cases tall stature.
Tetrasomy X, also known as 48,XXXX, is a chromosomal disorder in which a female has four, rather than two, copies of the X chromosome. It is associated with intellectual disability of varying severity, characteristic "coarse" facial features, heart defects, and skeletal anomalies such as increased height, clinodactyly, and radioulnar synostosis. Tetrasomy X is a rare condition, with few medically recognized cases; it is estimated to occur in approximately 1 in 50,000 females.
Pentasomy X, also known as 49,XXXXX, is a chromosomal disorder in which a female has five, rather than two, copies of the X chromosome. Pentasomy X is associated with short stature, intellectual disability, characteristic facial features, heart defects, skeletal anomalies, and pubertal and reproductive abnormalities. The condition is exceptionally rare, with an estimated prevalence between 1 in 85,000 and 1 in 250,000.
Trisomy X, also known as triple X syndrome and characterized by the karyotype 47,XXX, is a chromosome disorder in which a female has an extra copy of the X chromosome. It is relatively common and occurs in 1 in 1,000 females, but is rarely diagnosed; fewer than 10% of those with the condition know they have it.
XXXYY syndrome, also known as 49,XXXYY, is a chromosomal disorder in which a male has three copies of the X chromosome and two copies of the Y chromosome. XXXYY syndrome is exceptionally rare, with only eight recorded cases. Little is known about its presentation, but associated characteristics include intellectual disability, anomalies of the external genitalia, and characteristic physical and facial features. It is not caused by characteristics of the parents, but rather occurs via nondisjunction, a random event in gamete development. The karyotype observed in the syndrome is formally known as 49,XXXYY, which represents the 49 chromosomes observed in the disorder as compared to the 46 in normal human development.
References
- 1 2 3 4 "Jacobs, Prof. Patricia Ann, (born 8 Oct. 1934), Co-Director of Research, Wessex Regional Genetics Laboratory, 2001–15 (Director, 1988–2001)", Who's Who, Oxford University Press, 1 December 2007, doi:10.1093/ww/9780199540884.013.u21706, ISBN 978-0-19-954088-4 , retrieved 5 August 2018
- 1 2 3 Hamerton, J L (September 1982). "The William Allan Memorial Award. Presented to Patricia A. Jacobs, D.Sc., at the annual meeting of the American Society of Human Genetics, Dallas, October 28–31, 1981". American Journal of Human Genetics . 34 (5): 683–688. ISSN 0002-9297. PMC 1685433 . PMID 6751074.
- ↑ LEJEUNE J, GAUTHIER M, TURPIN R (26 January 1959). "Human chromosomes in tissue cultures". Comptes Rendus Hebdomadaires des Séances de l'Académie des Sciences . 248 (4): 602–3. PMID 13629913.
- ↑ "The Office of Women in Science and Medicine". www.hopkinsmedicine.org. Retrieved 15 January 2024.
- ↑ JACOBS PA, STRONG JA (31 January 1959). "A case of human intersexuality having a possible XXY sex-determining mechanism". Nature . 183 (4657): 302–3. Bibcode:1959Natur.183..302J. doi:10.1038/183302a0. PMID 13632697. S2CID 38349997.
- ↑ 47,XYY syndrome on Genetics Home Reference, Other Names. Retrieved 6 August 2017
- ↑ Sandberg, Avery A.; Koepf, George F.; Ishihara, Takaaki; Hauschka, Theodore S. (26 August 1961). "An XYY human male". The Lancet . 278 (7200): 488–489. doi:10.1016/S0140-6736(61)92459-X. PMID 13746118.
- Hauschka, Theodore S.; Hasson, John E.; Goldstein, Milton N.; Koepf, George F.; Sandberg, Avery A. (March 1962). "An XYY man with progeny indicating familial tendency to non-disjunction". American Journal of Human Genetics . 14 (1): 22–30. PMC 1932182 . PMID 13905424.
- ↑ Jacobs, Patricia A.; Brunton, Muriel; Melville, Marie M.; Brittain, Robert P.; McClemont, William F. (25 December 1965). "Aggressive behavior, mental sub-normality and the XYY male". Nature . 208 (5017): 1351–2. Bibcode:1965Natur.208.1351J. doi:10.1038/2081351a0. PMID 5870205. S2CID 4145850.
- Price, William H.; Strong, John A.; Whatmore, Peter B.; McClemont, William F. (12 March 1966). "Criminal patients with XYY sex-chromosome complement". The Lancet . 287 (7437): 565–6. doi:10.1016/S0140-6736(66)90760-4. PMID 4159988.
- editorial (12 March 1966). "The YY syndrome". The Lancet . 287 (7437): 583–4. doi:10.1016/S0140-6736(66)90771-9. PMID 4159658.
- Price, William H.; Whatmore, Peter B. (25 February 1967). "Criminal behavior and the XYY male". Nature . 213 (5078): 815. Bibcode:1967Natur.213..815P. doi: 10.1038/213815a0 . PMID 6031815. S2CID 4158233.
- Price, William H.; Whatmore, Peter B. (4 March 1967). "Behaviour disorders and pattern of crime among XYY males identified at a maximum security hospital". BMJ . 1 (5539): 533–6. doi:10.1136/bmj.1.5539.533. PMC 1841401 . PMID 6017153.
- Court Brown, W. Michael; Price, William H.; Jacobs, Patricia A. (11 May 1968). "Further information on the identity of 47,XYY males". British Medical Journal . 2 (5601): 325–8. doi:10.1136/bmj.2.354.325-a. PMC 1985597 . PMID 5689727.
- Jacobs, Patricia A.; Price, William H.; Court Brown, W. Michael; Brittain, Robert P.; Whatmore, Peter B. (May 1968). "Chromosome studies on men in a maximum security hospital". Annals of Human Genetics . 31 (4): 339–58. doi:10.1111/j.1469-1809.1968.tb00566.x. S2CID 83969793.[ permanent dead link ]
- Court Brown, W. Michael; Price, William H.; Jacobs, Patricia A. (23 November 1968). "The XYY male". BMJ . 4 (5629): 513. doi:10.1136/bmj.4.5629.513-a. S2CID 62593088.
- Jacobs, Patricia A. (September 1982). "The William Allan Memorial Award address: human population cytogenetics: the first twenty-five years". American Journal of Human Genetics . 34 (5): 689–98. PMC 1685430 . PMID 6751075.
- Harper, Peter S. (2006). "The sex chromosomes". First years of human chromosomes : the beginnings of human cytogenetics. Bloxham: Scion. pp. 77–96. ISBN 978-1-904842-24-8.
- ↑ Green, Jeremy (1985). "Media sensationalism and science: The case of the criminal chromosome". In Shinn, Terry; Whitley, Richard (eds.). Expository science: Forms and functions of popularisation. Dordrecht, Holland: D. Reidel Pub. Co. pp. 139–161. ISBN 978-90-277-1831-0.
- ↑ Beckwith, Jonathan R. (2002). "The myth of the criminal chromosome" . Making genes, making waves: A social activist in science. Cambridge, Massachusetts: Harvard University Press. pp. 116–134. ISBN 978-0-674-00928-8.
- ↑ Milunsky, Jeff M. (2010). "Prenatal diagnosis of sex chromosome abnormalities". In Milunsky, Aubrey; Milunsky, Jeff M. (eds.). Genetic disorders and the fetus: diagnosis, prevention and treatment (6th ed.). Oxford: Wiley-Blackwell. pp. 273–312. ISBN 978-1-4051-9087-9.
The addition of a Y chromosome to a normal male chromosome constitution does not produce a discernible phenotype. Males with 47,XYY cannot be characterised by discriminating physical or behavioural features. The first diagnosis of this condition, therefore, was a karyotypic and not a phenotypic discovery.
Pubertal development is normal and these men are usually fertile. - ↑ The Royal Society website. Retrieved 21 July 2008 Archived 9 June 2008 at the Wayback Machine
- ↑ "Knowledge Support & Action – Patricia Jacobs Lifetime Achievement Award". Archived from the original on 8 June 2008.
- ↑ "Top honour for scientist". Salisbury Journal. 16 February 2010. Retrieved 13 June 2017.
- ↑ "Salisbury District Hospital Geneticist Wins International Honour". salisbury.nhs.uk. Archived from the original on 14 October 2017. Retrieved 13 June 2017.
