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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Retrieved 27 January Annu Rev Genom Hum Genet. Klinefelter and Down syndrome”. Often, the diagnosis is made incidentally as a result of examinations and medical visits for reasons not linked to the condition. 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.

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.

Sindrome di Klinefelter

Am J Med Genet ; Not to be confused with XYY syndrome. Archived from the original on 2 July Advanced reproductive assistance is sometimes possible. They may have less muscle control and coordination than other boys of their age. Am J Med Genet ; A: As babies and children, XXY males may have weaker muscles and reduced strength.

At age 9 months, his length was 71 cm 25 th percentilehis weight was 7. Views Read Edit View history. Birth Defects Orig Artic Ser. The syndrome is sindfome the main cause of male hypogonadism.


Síndrome triple X – Síntomas y causas – Mayo Clinic

Carvalho I ; Clovis S. Klinefelter syndrome is one of the most common chromosomal disordersoccurring in one to two per 1, live male births.

Archived from the original on 30 July 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.

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.

Children with XXY differ little from other children. G Chir in Italian. Services on Demand Journal. Unfortunately, his mother died in an accident before the last exam.

Accepted 17 November J Pediatr ; By using this site, you agree to the Terms of Use and Privacy Policy.

Cariotipo síndrome de Klinefelter

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

He sat at 18 months, crawled at 22 months and a broad-based flat-footed gait was observed at 3 years of age. Physical therapyspeech and language therapycounseling [5].

Klinefelter and trisomy X syndromes in patients with Prader-Willi syndrome and uniparental maternal disomy of chromosome At this age, his length was 89 cm below 3 rd percentilehis weight was 18 kg 75 th percentileand he had an OFC of Oxford University Press, The standard diagnostic method is the analysis of the chromosomes’ karyotype on lymphocytes. 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.


This XXY chromosome arrangement is one of the most common genetic variations from the XY karyotype, occurring in about one in live male births.

Nearly normal life expectancy [6]. Prader-Willi syndrome is a mental retardation genetic disorder also characterized by hypogonadism, hyperphagia and obesity. Genetic testing karyotype [4]. Boy with 47,XXY,del 15 q 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. Eur J Med Genet. In the past, the observation of the Barr body was common practice, as well.

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 klinefeltet a significant benefit compared to those who had been carkotipo in adulthood. As such, male cats with calico or carotipo markings are a model organism for KS, because a color gene involved in cat tabby coloration is on the X chromosome.

As teens, XXY males may develop breast tissue [15] and also have weaker bones, and a lower energy level than other males. Received 3 Marchreceived in final form 18 October