ANOMALIAS DETECTADAS EN BOGOTÁ LOS ULTIMOS 10 AÑOS. SINDROME DE ANGELMAN. ¿QUE ANOMALIAS SE HAN DETECTADO. Biología y Genética – ro Fa ent C cu ro lín lt d ic ad e G a Al de en em M ét i e . Convert documents to beautiful publications and share them worldwide. Title: Anomalias cromosomicas, Author: Simon Bolivar, Length: 20 pages, Published.

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First report in North America, 37pp. Duplication of euchromatin without phenotypic effect: Prenat Diagn, 11pp. Full mosaic monosomy 22 in a child with DiGeorge syndrome facial appearance. Clin Genet, 31pp.

Trisomy 12 mosaicism in a 7 year old girl with dysmorphic features and cromisomicas mental development. Molecular analysis of an unbalanced deletion of the short arm of chromosome 5 that produces no phenotype. Ann Genet, 34pp. The phenotypic manifestations of chromosomal abnormalities are highly diverse.

Are you a health professional able to prescribe or dispense drugs? Ann Genet, 37pp. Robertsonian translocation associated with azoospermia. Familial duplications of proximal 15q in normal individuals. Prenatal diagnosis of a new family and brief review.


Anomalias Cromosomicas by valentina vasquez on Prezi

Hospital 12 de Octubre. Andrologia, 18pp. J Med Genet, 40pp. Biomed Pharmacother, 48pp.

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J Med Genet, 38pp. An azoospermic male with reciprocal translocation t 1;15 q11;p Anomzlias Genet, 80pp. Clin Genet, 25pp.

Detection of break points in submicroscopic chromosomal translocation, illustrating an important mechanism for genetic disease. Prenatal diagnosis, 16pp. Proximal 15q variant with normal phenotype in three unrelated individuals. J Med Genet, 27pp.

You can change the settings or obtain more information by clicking here. Relationship to late replicating DNA. Heritable deletion of dromosomicas 16q21 with normal phenotype: It is important to determine this risk to provide patients with appropriate genetic counseling. A transmitted deletion of 2q13 to 2q Hum Genet, 59pp.

Anomalias cromosomicas

Acta Pediatr Esp, 57pp. Actas Urol Esp, 13crmosomicas. Clin Genet, 53pp. Am J Med Genet, 36pp. Analysis of an interstitial deletion in a patient with Kallmann syndrome, X-linked ichthyosis and mental retardation.


Pediatr Pathol, 10pp. An Esp Pediatr, 48pp.

Genética Moderna: Anomalías Cromosómicas

Am J Med Genet, 69pp. Urol Int, 48pp. Hum Genet, 70pp. Hum Genet, 76pp. A clinical, cytogenetic and molecular study of ten probands with supernumerary inv dup 15 marker chromosomes.

Ann Genet, 27pp. Prenat Diagn, 9pp. An introduction to human chromosomes an their analysis. Non C-banding variants in some normal families might be homogeneously staining regions. Molecular screening for Yq microdeletion in men with idiopathic oligozoospermia and azoospermia.

Am J Med Genet,pp. Trisomy 18 mosaicism with complete peripheral lymphocyte trisomy and normal intelligence. Am J Med Genet, 75pp. It is important to determine this risk to provide patients with appropriate genetic counseling.