RESUMO
Approximately 15 patients with partial trisomy 9p involving de novo duplications have been previously described. Here, we present clinical, cytogenetic, FISH and aCGH findings in a patient with a de novo complex rearrangement in the short arm of chromosome 9 involving an inverted duplication at 9p24-->p21.3 and a deletion at 9pter-->p24.2. FISH probes generated from BACs selected from the UCSC genome browser were utilized to verify this rearrangement. It is likely that some previously described duplications of 9p may also be products of complex chromosomal aberrations. This report in which FISH and aCGH were used to more comprehensively characterize the genomic rearrangement in a patient with clinical manifestations of 9p duplication syndrome underscores the importance of further characterizing cytogenetically detected rearrangements.
Assuntos
Anormalidades Múltiplas/genética , Aberrações Cromossômicas , Cromossomos Humanos Par 9/genética , Hibridização Genômica Comparativa/métodos , Análise Citogenética/métodos , Anormalidades Múltiplas/patologia , Deleção Cromossômica , Deficiências do Desenvolvimento/patologia , Anormalidades do Olho/patologia , Feminino , Duplicação Gênica , Humanos , Hibridização in Situ Fluorescente , Lactente , Cariotipagem , Micrognatismo/patologiaRESUMO
Field estimates of parental investment in the two sexes in the social paper wasp Polistes fuscatus indicate that the mother's interests, rather than those of her worker offspring, are realized. Local competition for mates seemed to be absent, and the population investment ratio was not significantly different from 1:1. Workers are not more closely related to the brood they tend than they would be to their own offspring. The 3/4 relationship between sisters in haplodiploid species cannot account for the maintenance of eusociality in this case.