RESUMO
Nonrandom aberrations of chromosome 7 have been described in various hematopoietic disorders. We describe here two unrelated families with the same constitutional inversion of chromosome 7 [inv(7)(q11.2q22)]. The probands in both families had acute leukemia and cytogenetic analysis revealed that the inversion was the sole cytogenetic abnormality in the bone marrow at diagnosis. There is a history of hematologic diseases in one of these families that included a son who is a carrier of this constitutional inversion. The distal inversion breakpoint lies within the common region of chromosome loss identified in some myeloid diseases. These observations raise the possibility that this inherited chromosome rearrangement could result in a mutation of a tumor suppressor gene and possibly represent a predisposing event for the development of leukemia in these individuals.
Assuntos
Inversão Cromossômica , Cromossomos Humanos Par 7/genética , Leucemia Mielomonocítica Aguda/genética , Leucemia-Linfoma Linfoblástico de Células Precursoras/genética , Idoso , Criança , Evolução Fatal , Feminino , Neoplasias Hematológicas/genética , Humanos , LinhagemRESUMO
The acrocephalosyndactyly syndromes (ACS) are a group of clinically similar disorders that share the manifestations of craniosynostosis and a variety of hand and foot anomalies. Here we report on a 5-generation kindred segregating sagittal craniosynostosis and syndactyly of the fingers and the toes in an autosomal dominant manner. The anomalies seen in this kindred comprise a syndrome distinct from other craniosynostosis syndromes. For this novel syndrome, we propose the name craniosynostosis, Philadelphia type.
