INVESTIGADORES
GORLA Nora Bibiana Maria
artículos
Título:
Síndrome de Bloom, inestabilidad genética constitucional e inducida en dos casos de la Argentina
Autor/es:
GORLA NORA B M; BONDUEL M; HORACIO LEJARRAGA; F SACKMAN MURIEL; LARRIPA IRENE
Revista:
Sangre
Editorial:
Barcelona
Referencias:
Año: 1989
ISSN:
0036-4355
Resumen:
Bloom?s syndrome (BS) is a rare autosomal recessive hereditary disorder associated with pre- and postnatal growth dcñciency, a characteristic facial configuration, an increased risk of chromosome instability, and an increased risk of neoplasia. BS is often lumped together with Fanconi's anaemia, ataxia telangiectasia and xerodcr- ma pigmentosum, known as ?Chromosome instability syndromes?. Since 1954, when Bloom?s syndrome was defined, more then 100 cases have been diagnosed. The ?Bloom?s Syndrome International Re- gistry? does not included any case detected in Argentina. Here, we report the cytogenetic study of a family affected by BS. Two siblings were studied. A10 year oíd boy named DaYu and a 17 ycar oíd sistcr named CeYu. Both showed growth retardation from onemonth of age onwards, facial configuration characteristic, erythematous and sun sensitive lesions of the skin of the face. To confírm the BS diagnosis of both, obtained from their clinical aspects, they were referred to our cytogenetic laboratory. Standard cultures of peripheral blood from DaYu and CeYu (homozygotes bl/bl) and their parents (hcterozygo- tes bl/+) were performed for sister chromatid exchange (SCE) study.