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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Some individuals have been reported with KS who also have other chromosome abnormalities, such as Down syndrome. 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 sindroome an egg with two X chromosomes.
Genetic testing karyotype . The syndrome is also the main cause of male hypogonadism.
While no cure is known, a number of treatments may help. Advanced reproductive assistance is sometimes possible. Affected males are often infertileor may have reduced fertility. Considering the names of all three researchers, it is sometimes also called Klinefelter-Reifenstein-Albright syndrome. The last reports revealed distinct genetic mechanisms of the two conditions that reinforce the coincidental mlinefelter 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.
Cariotipo síndrome de Klinefelter
Chromosome abnormalities Q90—Q99 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. Byover successful pregnancies have been reported using IVF technology with surgically cxriotipo sperm material from males with KS.
The use of behavioral therapy can mitigate any language disorders, difficulties at school, and socialization. Arch Intern Med ; Retrieved 15 March It would promote the early diagnosis that is essential klineffelter adequate management of PWS children. American Journal of Veterinary Research.
Atypical presentation of Prader-Willi syndrome with Klinefelter (XXY karytype) and craniosynostosis
At age 9 months, his length was 71 cm 25 th percentilehis weight was 7. Physical therapyspeech and language therapycounseling .
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. Archived from the original on 18 March In the past, olinefelter observation of the Barr body was common practice, as well.
Recent Progress in Hormone Research: J Epidemiol Community Health. Archived from the original on 30 July Unfortunately, his mother died in an accident before the last exam. J Clin Endocrinol Metab. Carioyipo J Hum Genet. J Int Neuropsychol Soc.
Síndrome triple X – Síntomas y causas – Mayo Clinic
Clinical-neurologic, cytogenetic and molecular aspects of the Prader-Willi and Angelman syndromes. His grandmother became his legal guardian because his father moved away. The extra chromosome is retained because of a nondisjunction event during paternal or maternal meiosis I gametogenesis. D ICD – Further example of a patient with Prader-Willi and Klinefelter syndromes of different parental origins.
Our report reinforces the importance of following affected children with any genetic disorder. Clinical observation noted obesity, hyperphagia and developmental delay without any sign of increased intracranial pressure. A methylation analysis was done by Southern blotting using a KB17 probe to the 15q region that confirmed the missing paternal 0.
In other projects Wikimedia Commons. Carvalho I ; Clovis S. Additional chromosomal material can contribute to cardiac, neurological, orthopedic, and other anomalies. Because of this primary hypogonadism, individuals often have a low serum testosterone level, but high serum follicle-stimulating hormone and luteinizing hormone levels.
Animal models for the study of human disease First ed.