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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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. Considering the names of all three researchers, it is sometimes also called Klinefelter-Reifenstein-Albright syndrome.
Clinical observation noted kllinefelter, hyperphagia and developmental delay without any sign of increased intracranial pressure. G Chir in Italian. By adulthood, XXY males look similar to males without the condition, although they are often taller. J Pediatr ; Retrieved 27 January Archived from the original on 30 January Archives of Internal Medicine.
CASE We have evaluated a four-years-old boy since his first year of life.
This page was last edited on 25 Novemberat Another mechanism for retaining the extra chromosome is through a nondisjunction event during meiosis II in the egg. J Epidemiol Community Health. Am J Med Genet ; Craniosynostosis is considered a premature fusion of calvarial sutures, often associated with neurological manifestations or limb and craniofacial abnormalities.
Retrieved 4 September J Int Neuropsychol Soc. In the past, the observation of the Barr body was common practice, as well.
Annu Rev Genom Hum Genet. An approach by occupational therapy is useful in children, especially those who have dyspraxia. By using this site, you agree to the Terms of Use and Privacy Policy. Klinefelter syndrome is klinefslter of the most common chromosomal disordersoccurring in one to two per 1, live male births.
It would promote the early diagnosis that is essential for adequate management of PWS children. The results of a study carried 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.
Children with XXY differ little from other children. Nearly normal life expectancy [6]. During puberty, the physical traits of the syndrome become more evident; because these boys do not produce klibefelter much testosterone as other boys, they klinefellter a less muscular body, less facial and body hair, and broader hips.
National Library of Medicine.
Sindrome di Klinefelter
He sat at 18 months, crawled at 22 months and a broad-based flat-footed gait was observed at 3 years of age. In other projects Wikimedia Commons. The genetic variation is irreversible, but individuals who want to look more masculine can take testosterone.
Affected males are often infertileor may have reduced fertility. It was not possible to investigate the parental origin of the genetic abnormality mechanism. We report on a four-years-old boy, born to consanguineous parents, with uncommon co-occurrence of Prader-Willi syndrome, 47,XXY karyotype Klinefelter syndrome and coronal craniosynostosis.
Monosomy Turner syndrome 45,X. According to a meta-analysis, the prevalence of the syndrome has increased over the past decades; however, this does not appear to be related to increased age of the mother at conception, as no increase was observed in the rates of other trisomies of sex chromosomes XXX and XYY.
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.
His grandmother became his legal guardian because his father moved away. While no cure is known, a number of treatments may help. Klinefelter syndrome usually occurs randomly. Often, the diagnosis is made incidentally as a result of examinations and medical visits for reasons not linked to the condition.
Our report reinforces the importance of following affected children with any genetic disorder. Animal models for the study of human disease First ed.
Síndrome triple X – Síntomas y causas – Mayo Clinic
Archived from the original on 2 April 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.
Byover successful pregnancies have been reported using IVF technology with surgically removed sperm material from males with KS. 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.
Physical therapyspeech and language therapycounseling [5].
This syndrome, evenly distributed in all ethnic groupsklinfelter a prevalence of one to two subjects per every males in the general population. Not to be confused with XYY syndrome. Retrieved from ” https: A systematic literature review”.
Chromosome abnormalities Q90—Q99 The extra chromosome is retained because of a sindfome event during paternal or maternal meiosis I gametogenesis.
The co-occurrence of these three unrelated different clinical problems in the same patient was not reported before.