ABERRACIONES CROMOSOMICAS PDF

Palabras clave. Turner's syndrome is due to the absence or anomaly of an X chromosome, resulting in short stature, gonadal dysgenesis and various physical characteristics. The association of this syndrome with other alterations such as autoimmune diseases has been described and, in rare cases, coexists with Klippel-Feil syndrome. Case report. We present the case of a female patient with short stature and physical characteristics of Turner's syndrome.

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Introduction: The 3q29 microdeletion and microduplication syndromes are characterised by a marked phenotypic heterogeneity, and delayed development and a mild-moderate degree of intellectual disability are the most frequent clinical manifestations. Case reports: Two patients with reciprocal chromosomal aberrations in the 3q29 region. The patient with 3q29 microdeletion presented learning disabilities, borderline microcephaly, mild facial dysmorphism, attentional deficit and impulsiveness, and anxious and obsessive traits.

The patient with reciprocal 3q29 microduplication presented learning disabilities, mild facial dysmorphism and a disruptive behavioural profile that was not previously associated with this duplication. Conclusions: The phenotypes of these patients are compared and the literature about paediatric patients with 3q29 microdeletions and microduplications is reviewed.

Los sindromes de microdelecion y microduplicacion 3q29 se caracterizan por una marcada heterogeneidad fenotipica, y el retraso del desarrollo y la discapacidad intelectual de grado leve-moderado son las manifestaciones clinicas mas frecuentes. Casos clinicos. Dos pacientes con aberraciones cromosomicas reciprocas en la region 3q La paciente con la microdelecion 3q29 presenta dificultades de aprendizaje, microcefalia limite, dismorfismo facial leve, deficit atencional e impulsividad, y rasgos ansiosos y obsesivos.

El paciente con la microduplicacion 3q29 reciproca presenta dificultades de aprendizaje, dismorfismo facial leve y un perfil conductual disruptivo no asociado previamente con esta duplicacion.

Se comparan los fenotipos de estos pacientes y se revisa la bibliografia de pacientes pediatricos con microdeleciones y microduplicaciones 3q This site needs JavaScript to work properly. Please enable it to take advantage of the complete set of features! Clipboard, Search History, and several other advanced features are temporarily unavailable.

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Abstract in English , Spanish. Similar articles Familial inheritance of the 3q29 microdeletion syndrome: case report and review. Khan WA, et al. BMC Med Genomics. A clinical case report and literature review of the 3q29 microdeletion syndrome. Cox DM, et al. Clin Dysmorphol. Recurrent reciprocal 16p Shinawi M, et al. J Med Genet. Epub Nov Huynh MT, et al. Eur J Med Genet. Epub Mar PMID: A case of 3q29 microdeletion with novel features and a review of cytogenetically visible terminal 3q deletions.

Baynam G, et al. PMID: Review. Show more similar articles See all similar articles. Reis F, et al. Entire FGF12 duplication by complex chromosomal rearrangements associated with West syndrome. Oda Y, et al. J Hum Genet. Epub Jul Publication types Case Reports Actions. Research Support, Non-U. Gov't Actions. Adolescent Actions. Child Actions. Chromosome Deletion Actions. Female Actions. Gene Dosage Actions.

Gene Duplication Actions. Genetic Association Studies Actions. Humans Actions. Male Actions. Phenotype Actions. Supplementary concepts Chromosome 3q29 Deletion Syndrome Actions. Full-text links [x] Viguera Editores, S.

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COMPLEJO PRIMARIO DE GHON PDF

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Introduction: The 3q29 microdeletion and microduplication syndromes are characterised by a marked phenotypic heterogeneity, and delayed development and a mild-moderate degree of intellectual disability are the most frequent clinical manifestations. Case reports: Two patients with reciprocal chromosomal aberrations in the 3q29 region. The patient with 3q29 microdeletion presented learning disabilities, borderline microcephaly, mild facial dysmorphism, attentional deficit and impulsiveness, and anxious and obsessive traits. The patient with reciprocal 3q29 microduplication presented learning disabilities, mild facial dysmorphism and a disruptive behavioural profile that was not previously associated with this duplication. Conclusions: The phenotypes of these patients are compared and the literature about paediatric patients with 3q29 microdeletions and microduplications is reviewed. Los sindromes de microdelecion y microduplicacion 3q29 se caracterizan por una marcada heterogeneidad fenotipica, y el retraso del desarrollo y la discapacidad intelectual de grado leve-moderado son las manifestaciones clinicas mas frecuentes. Casos clinicos.

CESAIRE NOTEBOOK OF A RETURN TO THE NATIVE LAND PDF

2002, Número 2

Record details. Source: Biotemas, Vol 23, Iss 1, Pp Subjects: Acrocentron ; Centaurea ; Chamaecyanus. Subjects: Genotoxicity ; Toxicology ; Cell death. Source: Biotemas; v. Subjects: Fuso irregular ; Microsporogenesis ; Meiosis. Subjects: Fuso irregular ; Meiose ; Cordia ecalycula.

ENTERPRISE INTEGRATION PATTERNS HOHPE PDF

Anomalías Cromosómicas

Cytogenetic analysis of blast cells in childhood acute lymphoblastic leukemia has led to the recognition of specific non-random chromosomal abnormalities with prognostic value. Most patients with ALL show karyotype abnormalities, either in chromosome number ploidy or as structural changes such as translocations, inversions, or deletions. Many of these chromosomal alterations are associated with specific cytomorphological and immunological types. The greatest impact on patient management has been the finding that the cytogenetic result is an independent prognostic indicator. Certain karyotypes are associated with a favorable prognosis while others indicate a poor outcome. This has led to the administration of alternative therapies according to risk.

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