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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Archived from the original on 2 July Boy with 47,XXY,del 15 q It was not possible to investigate the parental origin of the genetic abnormality mechanism. Reifenstein at Massachusetts General Hospital in Boston, Massachusettsand first described it in the same year.
As they grow older, they tend to become taller than average. These are different unrelated conditions and it was not described before in the same patient to the best of our knowledge. G Chir in Italian.
Most can lead a normal, healthy life. D ICD – Am J Hum Genet.
Aneuploidias dos cromossomos sexuais
Advanced reproductive assistance is sometimes possible. They may have less muscle control and coordination than other boys of their age.
Considering the consanguinity and the absence of limbs anomalies, we propose that non-surgical premature coronal closure may be a recessive, non-syndromic, form of craniosynostosis and also an incidental co-occurrence in this patient.
Thus far, only about 10 cases have been described in literature. In other projects Cariptipo Commons. Orphanet Journal of Rare Diseases.
Klinefelter syndrome – Wikipedia
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.
We have evaluated a four-years-old boy since his first year of life. Analogous XXY syndromes are known to occur in cats —specifically, the presence of calico or tortoiseshell markings in male klinefeltwr is an indicator of the relevant abnormal karyotype.
Eur J Hum Genet. All the contents of this journal, except where otherwise noted, is licensed under a Creative Commons Attribution License.
Sindrome di Klinefelter
Accepted 17 November Monosomy Turner syndrome 45,X. Sibdrome Journal of Veterinary Research. The Journal of Urology. 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.
Síndrome de Klinefelter – Só Biologia
It sidnrome promote the early diagnosis that is klinefelfer for adequate management of PWS children. Other methods may include research of high serum levels of gonadotropins follicle-stimulating hormone and luteinizing hormonepresence of azoospermiadetermination of the sex chromatin and prenatally via chorionic villus sampling or amniocentesis.
Often, the diagnosis is made incidentally as a result of examinations and medical visits for reasons not linked to the condition.
Some individuals have been reported with KS who also have other chromosome abnormalities, such as Down syndrome. 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. Two or more X chromosomes in males . This XXY chromosome arrangement is one of the most common genetic variations from the XY karyotype, occurring in about one in live male births.
Archived from the original on 30 January Retrieved 27 January Genetic testing karyotype . Archived from the original on 17 March A methylation analysis was done by Ve blotting using a KB17 probe to the 15q region that confirmed the missing paternal 0.
This page was last edited on 25 Novemberat Some research suggests KS substantially decreases life expectancy among affected individuals, though the evidence is not definitive.