El síndrome de Klinefelter es una anomalía cromosómica que afecta solamente a los hombres y ocasiona hipogonadismo. (Se presenta cuando las glándulas. 13 May Title Slide of Anomalias cromosomicas. Anomalias cromosomicas. Anomalias cromosomicas. Upcoming SlideShare. Loading in 5. ×. Definición. Causas de las anomalías cromosómicas sexuales. Clasificación. Principales enfermedades asociadas a las anomalías cromosómicas sexuales.

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Am J Hum Genet, 39anomalias cromosomicas. Reset share links Resets both viewing and editing links coeditors shown below are not affected.

Biomed Pharmacother, 48pp. Am J Med Genet, 61pp. Hum Genet, 82pp.

More presentations by fernando urquizo mena transmicion vertical. Analysis of an interstitial deletion in a patient with Kallmann syndrome, X-linked ichthyosis and mental retardation. Prenat Diagn, 9pp. Delete comment or cancel. Robertsonian anomalias cromosomicas associated with azoospermia.

Relationship to late replicating DNA. Please log in to add your comment.

Repercusión clínica de las anomalías cromosómicas | Anales de Pediatría

Molecular cytogenetic study of supernumerary marker chromosomes in an unselected group of children. This study focuses on the anomalias cromosomicas important chromosomal abnormalities found in childhood ALL and their prognostic and therapeutic implications. Actas Urol Esp, 13pp. Se crpmosomicas de novo anomalias cromosomicas como resultado de un reordenamiento parental.


Clin Genet, 31pp. The greatest impact on patient management has been the finding that the cytogenetic result is an independent prognostic indicator. Hum Reprod, 12pp. Ann Genet, 37 anomalias cromosomicas, pp.

Houston, we have a problem! Chromosomal rearrangements in three infertile men. A clinical, cytogenetic and molecular study of ten cromosomicws with supernumerary inv dup 15 marker chromosomes.

Las mujeres tienen 2 cromosomas X. De novo balanced chromosome rearrangement and extra marker chromosomes identified at prenatal diagnosis: Send the anomalias cromosomicas below via email or IM. An Esp Ped, 82pp.

Chromosome abnormalities found among newborn children: Am J Anomalias cromosomicas Genet, 41pp. Balanced reciprocal translocation mosaicism: Am J Hum Genet, 49pp. Prenat Diagn, 11pp.

Anomalias cromosomicas

anomalias cromosomicas Present to your audience Start remote presentation. Clin Genet, 54pp. Trisomy 18 mosaicism with complete peripheral vromosomicas trisomy and normal intelligence.

Most patients with ALL show karyotype abnormalities, either in chromosome number ploidy or as structural changes such as translocations, inversions, or deletions. Comments 0 Please log in to add your comment. Cytogenet Cell Genet, 41pp. Prenatal diagnosis, anomalias cromosomicaspp. Los hombres tienen un cromosoma X y uno Y.


Am J Med Genet,pp. Clin Genet, 25pp. Detection of anomalias cromosomicas points in submicroscopic chromosomal translocation, illustrating an important mechanism for genetic disease.

Creating downloadable prezi, be ahomalias.

Clin Genet, 41pp. Existen dos anomalias cromosomicas de inversiones: Report of two patinets, one with a trisomic sib due to anomalias cromosomicas maternal insertion. Hum Genet, 96pp. Non C-banding variants in some normal families might be homogeneously staining regions.