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. Retrieved 15 June Physical therapyspeech and language therapycounseling [5]. How to cite this article. Services on Demand Journal.

Atypical presentation of Prader-Willi syndrome with Klinefelter (XXY karytype) and craniosynostosis

His grandmother became his legal guardian because his father moved away. Affected males are often infertileor may have reduced fertility. The genetic variation is irreversible, but individuals who want to look more masculine can take testosterone.

Am J Med Genet ; XXY males are also more likely than other men to have certain health problems that typically affect females, such as autoimmune disordersbreast cancervenous thromboembolic diseaseand osteoporosis. Thus far, only about 10 cases have been described in literature. Nearly normal life expectancy [6]. The extra chromosome is retained because of a nondisjunction event during paternal or maternal meiosis I gametogenesis.

Recent Progress in Hormone Research: Additional chromosomal material can contribute to cardiac, neurological, orthopedic, and other anomalies. Archived from the original on November 27, A systematic literature review”.

Jacobs described her discovery of this first reported human or mammalian chromosome aneuploidy in her William Allan Memorial Award address.


Another mechanism for retaining the extra chromosome is through a nondisjunction event during meiosis II in the egg. 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. CASE We have evaluated a four-years-old boy since his first year of life.

Not to be confused with XYY syndrome. Some degree of language learning or reading impairment may be present, [24] and neuropsychological testing often reveals deficits in executive functionsalthough caritipo deficits can often be overcome through early intervention.

Klinefelter syndrome is one of the most common chromosomal disordersoccurring in one to two carlotipo 1, live male births. Eur J Med Genet. In the past, the observation of the Barr body was common practice, as well.

Birth Defects Orig Artic Ser. As czriotipo, 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. The use of behavioral therapy can mitigate any language disorders, difficulties at school, and socialization.

National Library for Health.

An approach by occupational therapy is useful in children, especially those who have dyspraxia. Prader-Willi syndrome is a mental retardation genetic disorder also characterized by hypogonadism, hyperphagia and obesity. 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. We describe another case of this co-occurrence of Klinevelter and KS with the additional aspect of coronal craniosynostosis.

The last reports revealed distinct genetic mechanisms of the two conditions that reinforce the coincidental association of 1 uniparental maternal heterodisomy of chromosome 15 and paternal X-Y chromosome non-disjunction 3 or 2 paternally inherited microdeletion of chromosome 15 and maternal X-X inherited meiosis 1 non-disjunction 4,5. Some individuals have been reported with KS who also have other chromosome abnormalities, such as Down syndrome.


In adults, possible characteristics vary widely and include little to no sign of affectedness, a lankyyouthful build and facial appearance, or a rounded body type with some degree of gynecomastia increased breast tissue. J Int Neuropsychol Soc. Annu Rev Genom Hum Genet. We have evaluated a four-years-old boy since his first year of life. By adulthood, Fel males look similar to males without the condition, although they are often taller.

Klinefelter syndrome

Genetic testing karyotype [4]. G Chir in Italian.

He sat at 18 months, crawled at 22 months and a broad-based flat-footed klinefeltr was observed at 3 years of age. Oxford University Press, At 4 years and 2 months of age, he had skin picking and was able to pronounce few words even after speech therapy. The co-occurrence of these three unrelated different clinical problems in the same patient was not reported before. Tortoiseshell and calico male cats”.

Síndrome de Klinefelter – Só Biologia

The cause of hypogonadism can be attributed to many other different medical conditions. Monosomy Turner syndrome 45,X. Usually sindroem the XXY boys, abnormalities are not apparent during childhood, except for possible mild language delays.