Definizione, diagnosi, cause e terapia della Sindrome di Klinefelter. di cariotipo classico della Sindrome di Klinefelter: 47,XXY (Iitsuka et al, ; Bojesen et. Síndrome de Klinefelter o Síndrome 47, XXY. Definición. Es la presencia de un cromosoma X extra en un hombre. Su cariotipo de este síndrome es el siguiente: . Cariotipo síndrome de Klinefelter. Done. Comment. 6, views. 0 faves. 0 comments. Taken on March 10, All rights reserved · Tags · text.
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This XXY chromosome arrangement is one of the most common genetic variations from the XY karyotype, occurring in about one in live male births.
It was not possible to investigate the parental origin of the genetic abnormality mechanism. While no cure is known, a snidrome of treatments may help. Some research suggests KS substantially decreases life expectancy among affected individuals, though the evidence is not definitive. The extra chromosome is retained because of a nondisjunction event during paternal or maternal meiosis I gametogenesis. Archived from the original on Klinefelter syndrome is one of the most common chromosomal disordersoccurring in one to two per 1, live male births.
Byover successful pregnancies have been reported using IVF technology with surgically removed sperm material from males with KS. Retrieved 15 June Orphanet Journal of Rare Diseases.
Síndrome de Klinefelter – Só Biologia
Chromosome abnormalities Q90—Q99 Some degree of language learning or reading impairment may be present,  and neuropsychological testing often reveals deficits in executive functionsalthough these deficits can often be overcome through early intervention.
Retrieved 4 September Some individuals have been reported with KS who also have other chromosome abnormalities, such as Down syndrome.
By adulthood, XXY males look similar to males without the condition, although they are often taller. Additionally, some authors reported that small penis klinefelyer testes, or underdevelopment of external genitalia, are possible clues to precocious detection of Klinefelter children 9but these signs are found in few patients.
Additional chromosomal material can contribute to cardiac, neurological, orthopedic, and other anomalies. A methylation analysis was done by Southern blotting using a KB17 probe to the 15q region that confirmed the missing paternal 0.
Cariotipo síndrome de Klinefelter | Candy | Flickr
It would promote the early diagnosis that is essential for adequate management of PWS children. How to cite this article. Archived from the original on 2 April His grandmother became his legal guardian because his father moved away. Update on craniofacial surgery: Tortoiseshell and calico male cats”. Am J Med Genet ; A: Craniosynostosis is considered a premature fusion of calvarial sutures, often associated with neurological manifestations or limb and craniofacial abnormalities.
Another mechanism for retaining the extra chromosome is through a nondisjunction event during meiosis II in the egg. The syndrome is also the main cause of male hypogonadism.
Aneuploidias dos cromossomos sexuais
Although they can face problems during adolescenceoften emotional and behavioral, and difficulties at school, most of them can achieve full independence from their families in adulthood. Archived from the original on 15 March At this age, his length was 89 cm below 3 rd percentilehis weight was 18 kg 75 isndrome percentileand he had an OFC of Considering the names of all sindeome researchers, it is sometimes also called Klinefelter-Reifenstein-Albright syndrome.
As teens, XXY males may develop breast tissue  and also have weaker bones, and a lower energy level than other males. Birth Defects Orig Artic Ser.
Sindrome di Klinefelter
As babies and children, XXY males may have weaker muscles and reduced strength. Retrieved 15 March All the contents of this journal, except where otherwise noted, is licensed under a Creative Commons Attribution License.
National Library of Medicine. Proceedings of the Laurentian Hormone Conference. Advanced reproductive assistance is sometimes possible. American Journal of Veterinary Research. Affected males are often infertileor may have reduced fertility.