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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Carvalho I ; Clovis S. Prader-Willi syndrome is a mental retardation genetic disorder also characterized by hypogonadism, hyperphagia and obesity. 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.

These are different unrelated conditions and it was not described before in the same patient to the best of our knowledge. 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.

We describe another case of this co-occurrence of PWS and KS with the additional aspect of coronal craniosynostosis. We have evaluated a four-years-old boy since his first year of life.

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

He was born after an uneventful pregnancy and vaginal delivery with a birth weight of 2, g and birth length of 46 cm. At age 9 months, his length was 71 cm 25 th percentilehis weight was 7. 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.


Clinical observation noted obesity, hyperphagia and developmental delay klinnefelter any sign of increased intracranial pressure. He sat at 18 months, crawled at 22 months and a broad-based flat-footed gait was observed at 3 years of age.

Klinefelter syndrome

At 4 years and 2 months of age, he had skin picking carotipo was able to pronounce few words even after speech therapy. At this age, his length was 89 cm below 3 rd percentilehis weight was 18 kg 75 th percentileand he had an OFC of Also observed was a klinefelteer 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.

A methylation analysis was done by Southern blotting using a KB17 probe to the 15q region that confirmed the missing paternal 0.

Unfortunately, his mother died in an accident before the last exam. His grandmother became his legal guardian because his father moved away.

It was not possible to investigate the parental origin of the genetic abnormality mechanism. Craniosynostosis is considered a premature fusion of calvarial sutures, often associated with neurological manifestations or limb and craniofacial abnormalities.

It can be an isolated clinical problem or part of diverse known syndromes 7. 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 caeiotipo also an dee co-occurrence in this patient.

Síndrome triple X – Síntomas y causas – Mayo Clinic

The clinical presentation of this case must be distinguished from non-synostotic posterior plagiocephaly positional molding secondary to hypotonia or sleeping in the supine position during the early perinatal period because anterior and posterior coronal sutures are involved bilaterally 8. Usually with the XXY boys, abnormalities are not apparent during childhood, except for possible mild language delays.


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. It would promote the early diagnosis that is essential for adequate management of PWS children.

Our report reinforces the importance of klinefetler affected children with any genetic disorder. The co-occurrence of these three unrelated different clinical problems in the same patient was not reported before.

Clinical-neurologic, cytogenetic and molecular aspects of the Prader-Willi and Angelman syndromes. Arch Intern Med ; Klinefelter and trisomy X syndromes in patients with Prader-Willi syndrome and uniparental maternal disomy of chromosome Am J Med Genet ; Further example of a patient with Prader-Willi and Klinefelter simdrome of different parental origins.

Sindrome di Klinefelter

Boy with 47,XXY,del 15 q Am J Med Genet ; A: Am J Hum Genet. Oxford University Press, Update on craniofacial surgery: J Pediatr ; Received 3 Marchreceived in final form 18 October Accepted 17 November All the contents of this journal, except where otherwise noted, is licensed under a Creative Commons Attribution License.

Services on Demand Journal. CASE We have evaluated a four-years-old boy since his first year of life.

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