RESUMO
Literature review and clinical findings in four affected adult males from one family suggest that there are serious and currently ill-defined health risks in adults with Beckwith-Wiedemann syndrome (BWS). These may include male subfertility, vascular anomalies, renal abnormalities, hearing loss and, possibly, an increased risk for adult-onset malignancy. Given present knowledge, recommendations in caring for adults with this disorder remain tentative but likely should include counseling for possible infertility in males, screening echocardiography, renal sonogram and renal function testing, and counseling about possible increased risk for adult onset malignancy.
Assuntos
Síndrome de Beckwith-Wiedemann/genética , Síndrome de Beckwith-Wiedemann/terapia , Adulto , Síndrome de Beckwith-Wiedemann/complicações , Aconselhamento , Inibidor de Quinase Dependente de Ciclina p57/genética , Ecocardiografia , Feminino , Mutação em Linhagem Germinativa , Humanos , Recém-Nascido , Infertilidade Masculina/etiologia , Rim/diagnóstico por imagem , Testes de Função Renal , Masculino , Neoplasias/etiologia , Linhagem , Fenótipo , Fatores de RiscoRESUMO
DNA sequence and annotation of the entire human chromosome 7, encompassing nearly 158 million nucleotides of DNA and 1917 gene structures, are presented. To generate a higher order description, additional structural features such as imprinted genes, fragile sites, and segmental duplications were integrated at the level of the DNA sequence with medical genetic data, including 440 chromosome rearrangement breakpoints associated with disease. This approach enabled the discovery of candidate genes for developmental diseases including autism.
