Clinical, radiographic, and genetic observations in 2 families with cleidocranial dysplasia.

The clinical, radiographic, and molecular alterations in 7 individuals belonging to 2 families with clinical characteristics of cleidocranial dysplasia (CCD) were investigated. The patients underwent karyotype and genetic sequencing examinations. Cytogenetic analysis did not demonstrate any alterations. The next-generation sequencing technique employed for the molecular analysis revealed sequence variations in the RUNX2 gene: c.568C>T (p.Arg190Trp) in exon 4 in family A and c.1205del (p.Pro402Argfs*82) in exon 9 in family B. Incomplete closure of anterior fontanels, hypoplastic clavicles, and dental changes were observed in all 7 patients. Uncommon clinical findings, such as partial hearing loss and bilateral clavicular agenesis, were noted in some patients. According to the literature consulted, this is the first time that the total absence of the pubic bone in a study subject is being reported. The variable expression among individuals of the same family and between families A and B suggests the absence of a genotype-phenotype relationship. Early diagnosis allows the dentist to minimize the effects of changes associated with CCD by monitoring and providing appropriate treatment, and the identification of genetic sequence variations enables appropriate family genetic counseling.

The crhomosomal constitution of spermatozoa from eight normal, healthy brazilian men

Apresenta-se a análise citogenética de cromossomos de espermatozóides de oito homens brasileiros normais, utilizando-se a técnica de fertilizaçäo heteróloga homem-hamster. Os resultados obtidos säo semelhantes aos descritos em outros laboratórios que dominam esta técnica. Obteve-se freqüência de 5,4 por cento (variaçäo de 1.0-13.5 por cento) de aberraçöes cromossômicas, sendo 1.4 por cento de aberraçöes estruturais (variaçäo de 0.0-3.3 por cento), freqüência de hiper-haploidia de 2.0 por cento (variaçäo entre 0.0-5.1 por cento) e freqüência de hipo-haploidia de 5.6 por cento (variaçäo de 0.0-11.3 por cento). A diferença entre as proporçöes de espermatozóides X (54.1 por cento) e Y (45.9 por cento) foi significativa, ao nível de 5 por cento.