RESUMO
The case of thanatophoric dysplasia of the fetus was described. The disease was recognized by ultrasound. Karyotyping was successful after fetal blood sampling under continuous ultrasound guidance. An inversion of chromosome 10 was detected in the affected fetus. The confirmation of the thanatophoric dysplasia was done after termination of the pregnancy. The same inversion was detected in unaffected mother. Prenatal diagnosis was made in the next pregnancy. The result was an unaffected newborn delivered on term.
Assuntos
Aberrações Cromossômicas/diagnóstico , Cromossomos Humanos Par 10 , Doenças Fetais/diagnóstico , Osteocondrodisplasias/diagnóstico , Adulto , Transtornos Cromossômicos , Feminino , Doenças Fetais/genética , Humanos , Recém-Nascido , Masculino , Osteocondrodisplasias/genética , Gravidez , Ultrassonografia Pré-NatalRESUMO
We report on a 3-year-old boy with moderate developmental retardation, microcephaly, and malformations of ears, lids, mouth, and thumbs. Cytogenetic analysis demonstrated a direct duplication of chromosome subregion 4(q21.3-->q31.3). Confirmation of this specific rearrangement was performed by fluorescent in situ hybridization (FISH) with a chromosome painting probe and by means of quantitative Southern hybridization with DNA probes localized within the chromosome 4 region presumed to be duplicated.
Assuntos
Anormalidades Múltiplas/genética , Aberrações Cromossômicas/genética , Cromossomos Humanos Par 4 , Deficiências do Desenvolvimento/genética , Microcefalia/genética , Adulto , Southern Blotting , Pré-Escolar , DNA/análise , Face/anormalidades , Ossos Faciais/anormalidades , Feminino , Humanos , Hibridização in Situ Fluorescente , Cariotipagem , Masculino , Polegar/anormalidadesRESUMO
Two similar, but not identical, familial reciprocal translocations are described. In the first family, four sterile males inherited reciprocal translocation t(9;17)(q11'3) of maternal origin. In the second family, with the male fertility not impaired, reciprocal t(9;17)(q11;q11) was observed in four members of the family.
Assuntos
Cromossomos Humanos Par 17 , Cromossomos Humanos Par 9 , Fertilidade/genética , Infertilidade Masculina/genética , Translocação Genética , Adulto , Bandeamento Cromossômico , Feminino , Triagem de Portadores Genéticos , Humanos , Cariotipagem , Linfócitos/patologia , Masculino , LinhagemRESUMO
We report on a 6-year-old boy with moderate developmental retardation and unusual dermatoglyphics. Cytogenetic analysis demonstrated a duplication of chromosome sub-region 7p21.2-p14.2. Confirmation of the specific duplicated region was determined by quantitative Southern blotting by using a DNA fragment previously localized to the portion of chromosome 7 thought to be duplicated. This patient did not have the internal malformations seen with other dup(7p) patients.