ANOMALIAS CROMOSOMICAS PDF

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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Curr Opin Genet Dev, 13pp. Prenat Diagn, 13pp. You can change the settings or obtain more information by clicking here. Hum Genet, 71pp.

Anomalias cromosomicas

Isolation and characterization of the gene responsible for the X chromosome- linked Kallmann syndrome. J Biosci, 28pp. Trisomy 12 mosaicism in a 7 year old girl with dysmorphic features and normal mental development. Continuing navigation will be considered as acceptance of this use.

An introduction to human chromosomes an their analysis. Am J Med Genet, 61pp. Interstitial deletions without phenotypic cromoosmicas Hum Genet, 70pp.

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Calaméo – Anomalias cromosomicas

Molecular cytogenetic study of supernumerary marker chromosomes in an unselected group of children. J Med Genet, 38pp.

Analysis of an interstitial deletion in a patient with Kallmann syndrome, X-linked ichthyosis and mental retardation. Clinical significance and distribution of break points. Cytogenetic and molecular analysis of inv dup 15 chromosomes observed in two patients with autistic cromosomucas and mental retardation.

Chromosome imbalance, normal phenotype, and imprinting. Non C-banding variants in some normal families might be homogeneously staining regions. Si continua navegando, consideramos que acepta su crmoosomicas. Ann Genet, 34pp.

Prenatal diagnosis, 16pp. Proximal 15q variant with normal phenotype in three unrelated individuals. Biomed Pharmacother, 48pp.

Repercusión clínica de las anomalías cromosómicas | Anales de Pediatría

Familial duplications of proximal 15q in normal individuals. An Esp Pediatr, 49pp. Clin Genet, 53pp. First report in North America, 37pp. The phenotypic manifestations of chromosomal abnormalities are highly diverse. It is cromosomlcas to determine this risk to provide patients with appropriate genetic counseling.

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Ann Genet, 27pp. Heritable deletion of band 16q21 with normal phenotype: To improve our services and products, we use “cookies” own or third parties authorized to show advertising related anomqlias client preferences through the analyses of navigation customer behavior.

De novo balanced chromosome rearrangement and extra marker chromosomes identified at prenatal diagnosis: Am J Hum Genet, 39pp. Report of two patinets, one with a trisomic znomalias due to a maternal insertion.

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A transmitted deletion of 2q13 to 2q Am J Med Genet, 57pp. Hum Genet, 87pp. Hum Reprod, 12pp.