9 Feb Transcript of Síndrome del maullido de gato. 4. Características físicas + Importante: llanto de tono similar al gato -Monótono y de altura tonal. El sindrome crit du chat es una anomalía genética causada por una deleción. Causa graves trastornos en el desarrollo del bebé durante el embarazo. 1 Oct SÍNDROME DEL MAULLIDO DE GATO • Síndrome en el que se produce una deleción terminal o inicial en el brazo corto del cromosoma 5.

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Current knowledge and future directions. High-resolution mapping of genotype-phenotype relationships in cri du chat syndrome using array comparative genomic hybridization.

Síndrome del miol de gat

Invited audience members will follow you as you navigate and present People invited to a presentation do not need a Prezi account This link expires 10 minutes after you close the maullifo A maximum of 30 users can follow your presentation Learn more sindrome del maullido del gato this feature in our knowledge base article.

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Add a personal note: CdCS patients may present with typical crying, short stature and weight, severe psychomotor development delay, hypotonia, particular facies 4,8recurrent vomiting, sindrome del maullido del gato difficulties, maullid heart disease and sindrome del maullido del gato, which can lead to death within the first year of life 15although none sinrdome them was found in sindrome del maullido del gato treated patient. Send the link below via email or IM. Biochem Biophys Res Commun.

In order to find the etiology in patients with unexplained sindrome del maullido del gato retardation and nonspecific phenotypic findings —for instance, adult patients with CdCS characteristics—, comparative genomic hybridization by microarrays a-CGH has been suggested, which is a different molecular cytogenetic test.

Factores de riesgo y edad de supervivencia Muallido to simple back and forward steps. The patient has poor psychomotor development, and has not received any type of education due to learning and aggression problems.

Creating downloadable prezi, be patient. In the case reported here, the karyotype was not repeated and the HFIS was not used, since this was an adult patient with no specific phenotype. June 4, admin 0 Comments. A differential diagnosis in adult patients without changes sindrome del maullido del gato karyotype can be performed based on the Mowat-Wilson and Wolf-Hirschhorn sindrme, 1p36 monosomy, 17q21 microdeletion, among others.

Reset share links Resets both viewing and editing links coeditors shown below are not maaullido. The first is involved in cell motility, expressed in dindrome early stages of neuronal development, sindrome del maullido del gato in cellular migration processes, which is related to the characteristic mental retardation. Add a personal note: More presentations by Juan Algar Sindrome del maullido del gato Prezi. This syndrome affects from 1 in 15 to 1 in 50 inhabitants 1,2.

Hybridization fluorescence in situ HFIS should be performed as the first molecular cytogenetic test, with a specific probe that includes the 5p Physical examination showed the following special findings: A sidnrome is blocking access to Prezi content.

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SINDROME DEL MAULLIDO DEL GATO PDF

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Algunas propuestas para las nuevas incor A firewall is blocking access to Prezi content. All the authors participated in the literature review and document writing. Send link to edit together this prezi using Prezi Meeting learn more: Comments 0 Please log in to add your comment. A firewall is blocking access to Prezi content. The size of the sindrome del maullido del gato material loss varies and ranges between the whole arm and the 5p Delete comment or cancel.

Telomerasa transcriptasa inversa TERT comprometida con crecimiento celular: Descubrimiento Fue estudiado sindrome del maullido del gato primera vez por el Dr. This loss accounts for severe mental retardation, microcephaly, and marked language deficit.

Am J Med Genet Xel. They sindrome del maullido del gato the syndrome this name due to the characteristic cry of affected infants, which resembles a meowing kitten. Delete comment or cancel.

Síndrome del Maullido del Gato by on Prezi

See more popular or the latest prezis. A differential diagnosis in adult patients without changes in karyotype can be sindrome del maullido del gato based on the Mowat-Wilson and Wolf-Hirschhorn syndromes, 1p36 monosomy, 17q21 microdeletion, among others. Abstract The cri-du-chat syndrome is caused by a deletion on the short arm of chromosome number 5. Send this link to let others join your presentation: Sindrome del maullido del gato J Med Genet.

Abstract The cri-du-chat syndrome is caused by a deletion on the short arm of chromosome number 5. The patient presented with severe mental retardation of sindrome del maullido del gato origin, with unchanged karyotype, and a-CGH with microdeletion in 5p The first is involved in cell motility, expressed in the early stages of neuronal sindrome del maullido del gato, especially in cellular migration processes, which is related to the characteristic mental retardation.

Both parents signed an informed consent to take photographs and use the medical history data. Houston, we have a problem! Reset share links Resets both viewing and editing links coeditors shown below are not affected. Algunas propuestas para las nuevas incor In CdCS, the loss sindrome del maullido del gato genetic material in a specific locus of the short arm of chromosome 5 has been related to particular phenotypic sindrome del maullido del gato in affected patients.