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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The incidence of chromosome anomalies in newborn infants is 0. The phenotypic manifestations of chromosomal abnormalities are highly diverse. It is important to determine this risk to provide patients with appropriate genetic counseling. Phenotypic consequences of chromosome abnormalities. Hospital 12 de Octubre.

It is important to determine this risk to provide patients with appropriate genetic counseling. Chromosome abnormalities found among newborn children: Results from a year incidence study in Arhus, Denmark. Hum Genet, 87pp. An introduction to human chromosomes an their analysis. Full mosaic monosomy 22 in a child with DiGeorge syndrome facial appearance. Am J Med Genet, 76pp. Cytogenetic and molecular analysis of trisomy 9.

Case report and review.

Anomalias cromosomicas

Ann Genet, 37pp. Characteristic of structural heart defects in trisomy 9 and their relationship to those in trisomy 13, 18 y Am Heart J,pp. Ann Cromosoicas, 34pp. Pediatr Pathol, 10pp. Internal intersexuality masculine uterus and severe abnormality of the anterior chamber of the eye. Ann Genet, 27pp.

Trisomy 20 mosaicism confirmed in a phenotypically normal liveborn. Prenat Diagn, 9pp. Clin Genet, 25pp. De novo balanced chromosome rearrangement and extra marker chromosomes identified at prenatal diagnosis: Clinical significance and distribution of break aomalias.

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Am J Hum Genet, 49pp. Two cases of Robertsonian translocations in oligozoospermic males and their consequences for pregnancies induced by intracytoplasmatic sperm injection.

Hum Reprod, 12pp. Hum Genet, 96pp. Robertsonian translocation associated with azoospermia. Urol Int, 44pp. An azoospermic male with reciprocal translocation t 3;4 p21;q Cromoosmicas Int, 48pp. Translocation t 1;5 q21;p13 in a male with azoospermia.

Actas Urol Esp, 13pp. An azoospermic male with reciprocal translocation t 1;15 q11;p Hum Genet, 77crlmosomicas. Chromosomal rearrangements in three infertile men. Andrologia, 18pp. A human 9;20 reciprocal translocation associated with male infertility analyzed at prophase and metaphase I meiosis.

Cytogenet Cell Genet, 41pp.

Hum Genet, 71pp. Risk of phenotypic abnormalities in paracentric inversion carriers. Am J Med Genet, 69pp. Endocr Metab Clin North Am, 25pp. Uniparental disomy 16 in association with congenital heart disease. Prenatal diagnosis, 16pp. An Crpmosomicas Pediatr, 48pp. A rare inherited euchromatic heteromorphism on chromosome 1. Prenat Diagn, 13pp. Chromosome imbalance, normal phenotype, and imprinting. J Med Genet, 27pp.

A transmitted deletion of 2q13 to 2q J Med Genet, 38pp. A benign cytogenetic variant?.

Am J Med Genet, anomlaias, pp. Duplication of chromosome region 8p Am J Med Genet, 91pp. Am J Med Genet, 37pp. Non C-banding variants in some normal families might be homogeneously staining regions. Hum Genet, 82pp. Report of two patinets, one with a trisomic sib due to a maternal insertion. Gene dosage effect for esterase D. Hum Genet, 59pp.

Calaméo – Anomalias cromosomicas

Familial duplications of proximal 15q in normal individuals. Am J Hum Genet, 39pp. Proximal 15q variant with normal phenotype in anomaluas unrelated individuals. Clin Genet, 31pp. Duplication of euchromatin without phenotypic effect: A variant of chromosome Am J Med Genet, 36pp.

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Hum Genet, 80pp. Hum Genet, 76pp. First report in North America, 37pp. Prenatal ascertainment of an inherited dup 18p associated with apparently normal phenotype. Am J Med Genet, 41pp. Molecular analysis of an unbalanced deletion of the short arm of chromosome 5 that produces no phenotype. Deletion of band 13q21 is compatible with normal phenotype.

Hum Genet, 70pp. Anomaliaz deletions without phenotypic effect: Prenatal diagnosis of a new family and brief review. Prenat Diagn, 11pp. Heritable deletion of band 16q21 cromosomifas normal phenotype: Relationship to late replicating DNA. Am J Hum Genet, 43pp. Detection of break points in submicroscopic chromosomal translocation, illustrating an important mechanism for genetic disease. Lancet, 2pp. The use of telomere probes to investigate submicroscopic rearrangements associated with mental retardation.

Curr Opin Genet Dev, 13ankmalias. A diagnosis at the end of the chromosomes.

Repercusión clínica de las anomalías cromosómicas | Anales de Pediatría

J Med Genet, 40pp. Acta Pediatr Esp, 57pp. An Esp Pediatr, 49pp. Analysis of an interstitial deletion in a patient with Kallmann syndrome, X-linked ichthyosis and mental retardation. Clin Genet, 54pp. Isolation and characterization of the gene responsible for the X chromosome- linked Kallmann syndrome.

Biomed Pharmacother, 48pp. An Esp Ped, 82pp.