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.

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2002, Número 2

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.


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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.


Anomalías Cromosómicas

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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