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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His grandmother became his legal guardian because his father moved away. From Wikipedia, the free encyclopedia. The co-occurrence of these three unrelated different clinical problems in the same patient was not reported before.

Sindrome di Klinefelter

Physical therapyspeech and language therapycounseling [5]. Am J Hum Genet. An approach by occupational therapy is useful in children, especially those who have dyspraxia.

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Because of this primary hypogonadism, individuals often have a low serum testosterone level, but high serum follicle-stimulating hormone and luteinizing hormone levels. The cause of hypogonadism can be attributed to many other different medical conditions. Retrieved 4 September They may have less muscle control and coordination than other boys of their age.

In the past, the observation of the Barr body was common practice, as well. XXY males are also more likely than other men to have certain health klinefrlter that typically affect females, such as autoimmune disordersbreast cancervenous thromboembolic diseaseand sindroms.

The Journal of Urology. In adults, possible characteristics vary widely and include little to slndrome sign of affectedness, a lankyyouthful build and facial appearance, or a rounded body type with some degree of gynecomastia increased breast tissue.


Klinefelter and Down syndrome”. Other methods may include research of high serum levels of gonadotropins follicle-stimulating hormone and luteinizing hormonepresence of azoospermiadetermination of the sex chromatin[39] and prenatally via chorionic villus sampling or amniocentesis.

It would promote the early diagnosis that is essential for adequate management of PWS children. While no cure is known, a number of treatments may help. Clinical observation noted obesity, hyperphagia and developmental delay without any sign of increased intracranial pressure.

Sex chromosome aneuploidies Genetic syndromes Intersex klinefeelter medicine. Bone reconstruction CT scan revealed an early closure of the anterior and posterior coronal sutures, but surgical intervention was not necessary Figs 12 and 3.

Also observed was a narrow bifrontal diameter, epicanthic folds, almond shaped oblique palpebral fissures, esotropia, cupid arch upper lip with sticky saliva, marked truncal obesity and small hands and feet. Archived from the original on 2 April Reifenstein at Massachusetts General Hospital in Boston, Massachusettsand first described it in the same year.

Birth Defects Orig Artic Ser. Archived from siindrome original on klinegelter March An academic term for this is psychosocial morbidity. A methylation analysis was done by Southern blotting using a KB17 probe to the 15q region that confirmed the missing paternal 0. Archived from the original on 30 July As babies and children, XXY males may have weaker muscles and reduced strength. Services on Demand Journal. By adulthood, XXY males look dl to males without the condition, although they are often taller.

Klinefelter syndrome – Wikipedia

Update on craniofacial surgery: Archived from the original on November 27, 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 klinefeltee negative identification is karyotype testing. These are different unrelated conditions and it was not described before in the same patient to the best of our knowledge.


The clinical presentation of this case must be distinguished from non-synostotic posterior plagiocephaly positional molding secondary to hypotonia or sleeping in the supine position during the early perinatal period because anterior and posterior coronal sutures are involved bilaterally 8. It can be an isolated clinical problem or part of diverse known cxriotipo 7. Our report reinforces the importance of following affected children with any genetic disorder.

J Epidemiol Community Health. The standard diagnostic method is the analysis of the chromosomes’ karyotype on lymphocytes. As they grow older, they tend to become taller than average. In it was discovered that Klinefelter syndrome resulted from an extra chromosome.

Analogous XXY syndromes are known to occur in cats —specifically, the presence of calico or tortoiseshell markings in male cats is an indicator of the relevant abnormal karyotype. Sindroke occurs when sister drl on the sex chromosome, in this case an X and an X, fail to separate. Some degree of language learning or reading impairment may be present, [24] and neuropsychological testing often reveals deficits klinefeltsr executive functionsalthough these deficits can often be overcome through early intervention.