ABSTRACT
The only known twin pair evidently discordantly affected for the BDLS (Brachmann-de Lange syndrome) and who had been considered monozygotic (MZ) based on blood analysis remained a problem because biological zygosity determination needed further typing. In this report we review the clinical findings of this pair of twins at the age of 20. The use of DNA fingerprinting with three multilocus probes, F10, DNF24, and 33.6, allowed us to present evidence of monozygosity with a high degree of certainty. The significance of this confirmation of discordance in determining the cause of BDLS is discussed. Intensive comparative genomic studies of the discordant twin sisters may be useful to unravel the molecular genetics of this enigmatic pattern of malformation.
Subject(s)
De Lange Syndrome/genetics , Twins, Monozygotic , Adult , Chromosome Banding , Chromosomes, Human, Pair 3 , DNA Fingerprinting , De Lange Syndrome/complications , Diseases in Twins , Face/abnormalities , Female , Follow-Up Studies , Head/abnormalities , Humans , Intellectual Disability/complications , Intellectual Disability/geneticsABSTRACT
Os autores apresentam sua experiencia com o tratamento esclerosante do prolapso retal em 100 criancas com menos de 5 anos de idade.Demonstram a tecnica simples do processo terapeutico e os excelentes resultados obtidos.Tecem tambem comentarios sobre a incidencia e etiologia do prolapso retal em criancas com menos de 5 anos de idade
