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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Sex chromosome aneuploidies Genetic syndromes Intersex and medicine. Archives of Internal Medicine.

The results of a study cariofipo out on 87 Australian adults with the syndrome show that those who have had a diagnosis and appropriate treatment from a very young age had a significant benefit compared to those who had been diagnosed in adulthood. Am J Hum Genet. Oxford University Press, As teens, XXY males may develop breast tissue [15] and also have weaker bones, and a lower energy level than other males.

Klinefelter syndrome

It can be an isolated clinical problem or part of diverse known syndromes 7. Am J Med Genet ; Some individuals have been reported with KS who also have other chromosome abnormalities, such as Down syndrome.

Archived from the original on 17 March In the past, the observation of the Barr body was common practice, as well. Craniosynostosis is considered a premature fusion of calvarial sutures, often associated with neurological manifestations or limb and craniofacial abnormalities. Most can lead a normal, healthy life.

Síndrome triple X – Síntomas y causas – Mayo Clinic

J Epidemiol Community Health. G Chir in Italian. As they grow older, they tend to become taller than average. Often, the diagnosis is made incidentally as a result of examinations and medical visits for reasons not linked to the condition.


Retrieved from ” https: Genetic testing karyotype [4].

It was not possible to investigate the parental origin of the genetic abnormality mechanism. American Journal klinefeter Veterinary Research. They may have less muscle control and coordination than other boys of their age. Additionally, some authors reported that small penis and testes, or underdevelopment of external genitalia, are possible clues to precocious detection of Klinefelter children 9but these signs are found in few patients.

Birth Defects Orig Artic Ser. At age 9 months, his length was 71 dell 25 th percentilehis weight was 7. Retrieved 15 June Received 3 Marchreceived in final form 18 October Archived from the original on Archived from the original on 30 January Orphanet Journal of Rare Diseases.

These are different unrelated conditions and it was not described before in the same patient to the best of our knowledge. The co-occurrence of these three unrelated different clinical problems in the same patient was not lkinefelter before. Because of this primary hypogonadism, individuals often have a low serum testosterone level, but high serum follicle-stimulating hormone and luteinizing hormone levels.

Another mechanism for retaining the extra chromosome df through a nondisjunction event during meiosis II in the egg. Archived from the original on 2 July We describe another case of this co-occurrence of PWS and KS with the additional aspect of coronal craniosynostosis. Clinical observation noted obesity, hyperphagia and developmental delay without any sign of increased intracranial pressure.

Monosomy Turner syndrome 45,X. This syndrome, evenly distributed in all ethnic groupshas a prevalence of one to two subjects per caeiotipo males in the general population.


Sindrome di Klinefelter, malattie rare

The extra chromosome is retained because of a nondisjunction event during paternal or maternal meiosis I gametogenesis. Some research suggests KS substantially decreases life expectancy among affected individuals, though the evidence is not definitive. Eur J Hum Genet. Advanced reproductive assistance is sometimes possible.

While XXY males can possibly be characterised based on physical characteristics, substantial variation in physical and developmental traits mean the only reliable method of positive or negative identification is karyotype testing.

Retrieved 16 March At this age, his length was 89 cm below 3 rd percentilehis weight was 18 kg 75 th percentileand cariotupo had an OFC of J Clin Endocrinol Metab. Further example of a patient with Prader-Willi and Klinefelter syndromes of different parental origins.

The Journal of Urology. By adulthood, XXY males look similar to males without the condition, although they are often taller.

Klineflter reconstruction CT scan revealed an early closure of the anterior and posterior coronal sutures, but surgical intervention was not necessary Figs 12 and 3.

Accepted 17 November We have evaluated a four-years-old boy since his first year of life. As such, male cats with calico or tortoiseshell markings are a model organism for KS, because a color gene involved in cat tabby coloration is on the X chromosome.