Biomedical subjects
Publications and source records attributed to E Barreiro Miranda.
The incidence of chromosome anomalies in newborn infants is 0.7-0.8 %. The phenotypic manifestations of chromosomal abnormalities are highly diverse. These anomalies may be present in phenotypically normal individuals in whom they can increase the risk of recurrent miscarriage and birth defects and/or mental retardation. It is important to determine this risk to provide patients with appropriate genetic counseling.
The aim of the study was to define the frequency and prognostic significance of acquired chromosomal abnormalities in our adult population and to ascertain whether karyotype represents a significant prognostic factor in adult patients with acute lymphoblastic leukemia (ALL) independently of the new intensive chemotherapy programs and initial clinical characteristics.
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. For instance, hyperdiploidy with a modal chromosome number of 51 or greater, which represents 25-30 % of all cases of ALL, has proved to have the most favorable prognosis among established ploidy groups, whilst translocations such as the Philadelphia translocation t(9;22) and t(4;11) are associated with a poor prognosis. This study focuses on the most important chromosomal abnormalities found in childhood ALL and their prognostic and therapeutic implications.
Congenital heart malformations are the most common of all birth defects, affecting 0.5-1% of all live births. Some of these malformations are due to genetic anomalies. Patterns of autosomal dominant, autosomal recessive and X-linked inheritance have been described. Mitochondrial inheritance and chromosomal anomalies can also be responsible for congenital heart malformations. Several genes for congenital heart defects have been identified. We review current knowledge on the genetic etiology of congenital heart disease.
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OBJECTIVE: WAGR syndrome is a rare syndrome which involves microdeletions of the short arm of chromosome 11 at band 11p13. The clinical features are Wilms' tumor, amiridia, genitourinary abnormalities and mental retardation. There are very few reported cases. We report a new case of WAGR syndrome and review the literature. PATIENTS AND METHODS: Chromosome preparations were obtained from lymphocyte cultures of peripheral blood. For chromosome analysis GTG banding and fluorescent "in situ" hybridization (FISH) were used. RESULTS: Chromosomal analysis revealed deletion of p12-p13 bands. Our patient had bilateral aniridia, Wilms' tumor and cryptorquidia. CONCLUSIONS: The karyotype was 46, XY, del (11)(p12-p13). The p13 band deletion was the cause of the WAGR syndrome.
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