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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Klinefelter and trisomy X syndromes in patients with Prader-Willi syndrome and uniparental maternal disomy of chromosome Jacobs described her discovery of this first reported human or mammalian chromosome aneuploidy in her William Allan Memorial Award address. From Wikipedia, the free encyclopedia.

Cariotipo síndrome de Klinefelter | Candy | Flickr

Most can lead a normal, healthy life. Nondisjunction occurs when sister chromatids on sindrime sex chromosome, in this case an X and an X, fail to separate.

Prader-Willi syndrome is a mental retardation genetic disorder also characterized by hypogonadism, hyperphagia and obesity. Animal models for the study of human disease First ed.

Klinefelter syndrome usually occurs randomly. Archived from the original on 15 March This XXY chromosome arrangement is one of the most common genetic variations from the XY karyotype, occurring in about one in live male births.

Not to be confused with XYY syndrome.

Archived from the original on November 27, He was born after an uneventful pregnancy and vaginal delivery with a birth weight of 2, g and birth length of siindrome cm. Carvalho I ; Clovis S. 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 klinedelter chromosome 15 and d X-X inherited meiosis 1 non-disjunction 4,5.


The genetic variation is irreversible, but individuals who want to look more masculine can take testosterone. Nondisjunction occurs when homologous chromosomes, in this case the X and Y or two X sex chromosomes, fail to separate, producing a sperm with an X and a Y chromosome or an egg with two X chromosomes. Unfortunately, his mother died in an accident before the last exam.

Am J Hum Genet. 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.

Two or more X chromosomes sinsrome males [2]. How to cite this article. D ICD – Received 3 Marchreceived in final form 18 October Archived from the original on 2 July At age 9 months, his length was 71 cm 25 th percentilehis weight was 7. The Journal of Urology. Clinical-neurologic, cytogenetic and molecular aspects of the Prader-Willi and Angelman syndromes. Am J Med Genet ; American Journal of Veterinary Research. Some individuals have been reported with KS who also have other chromosome abnormalities, such as Down syndrome.


Bone reconstruction CT scan revealed an early closure of the anterior and klknefelter coronal sutures, but surgical intervention was not necessary Figs 12 and 3.

Additional chromosomal material can contribute to cardiac, neurological, orthopedic, and other anomalies. Proceedings of the Laurentian Hormone Conference. Annu Rev Genom Hum Genet. 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. At 4 years and 2 months of age, he had skin picking and was able to pronounce few words even after speech therapy.

As babies and children, XXY males may have weaker muscles and reduced strength.

Cariotipo síndrome de Klinefelter

Eur J Med Genet. All the contents of this journal, except where otherwise noted, is licensed under a Creative Commons Attribution License.

Often, the diagnosis is made incidentally as a result of examinations and medical visits for reasons not linked to the condition. Another mechanism for retaining the extra chromosome is through a nondisjunction event during meiosis II in the egg. Some research suggests KS substantially decreases life expectancy among affected individuals, though the evidence is not definitive.

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