RESUMO
A heritable fragile site at 12q13 is described in lymphocytes from a woman with a history of multiple miscarriage. The fragile site was not typically folate-sensitive, being expressed in standard medium. The presence of this fragile site may have led to meiotic chromosome breakage and consequent infertility.
Assuntos
Aborto Habitual/etiologia , Aberrações Cromossômicas/complicações , Fragilidade Cromossômica , Cromossomos Humanos Par 12 , Adulto , Transtornos Cromossômicos , Sítios Frágeis do Cromossomo , Relação Dose-Resposta a Droga , Feminino , Ácido Fólico/farmacologia , Humanos , GravidezRESUMO
To date, in utero bone marrow transplantation (BMT) has had limited success, largely because of poor donor engraftment. The poor engraftment is probably the result of performing the procedure late in gestation after significant fetal immunocompetence has developed and/or transplanting insufficient numbers of donor hematopoietic stem cells for competing successfully with ongoing fetal hematopoiesis. To overcome these problems, we performed in utero BMT on a fetus with globoid cell leukodystrophy during the first trimester of gestation using selected paternal bone marrow stem (CD34+) cells. CD34 selection allowed a substantially greater number of stem cells to be transplanted. Although the fetus died 7 weeks after the procedure (during the 20th week of gestation), full donor engraftment was established. Moreover, the cause of death appeared to be overwhelming donor engraftment and leukostasis with paternal myeloid cells infiltrating most tissues. The ability of in utero BMT to produce this degree of engraftment provides great promise for the use of this approach in the treatment of a variety of inherited disorders that can be diagnosed prenatally.
Assuntos
Transplante de Medula Óssea , Leucodistrofia de Células Globoides/terapia , Feminino , Doenças Fetais/terapia , Sobrevivência de Enxerto , Humanos , Masculino , GravidezRESUMO
An unstable ring chromosome 21 detected through prenatal studies was associated at birth with an apparently normal male phenotype. At 14 months of age, examination indicated only minor developmental delay. The majority of cells examined from amniocyte, fibroblast, and lymphocyte cultures contained an asymmetrical dicentric ring 21 chromosome which was larger than a normal chromosome 21. This ring is presumed to be a duplication for most of chromosome 21 and a deletion of part of the terminal regions. The karyotype is described as mos45,XY,-21/46,XY,r(21)(p13q22.3). The child is monosomic for part of the sub-band 21q22.3 in every cell and trisomic for the remainder of the chromosome in most of his cells. The terminal deletion does not appear to have been severely detrimental to the phenotype and the effective trisomy present in many cells studied was insufficient to cause the Down syndrome.
Assuntos
Aberrações Cromossômicas , Aberrações Cromossômicas/diagnóstico , Transtornos Cromossômicos , Cromossomos Humanos 21-22 e Y , Diagnóstico Pré-Natal , Cromossomos em Anel , Adulto , Aberrações Cromossômicas/genética , Bandeamento Cromossômico , Feminino , Humanos , Lactente , Cariotipagem , Masculino , GravidezRESUMO
Two cases are reported in which an unusual ultrasound finding preceded diagnostic amniocentesis and led to further work-up. In both cases a decision was made to terminate the pregnancy. One fetus in which a neck mass was detected by ultrasound was shown to be normal on post-mortem examination. The second fetus was aborted because of Rh sensitization and had the abnormality seen by ultrasound. However, this lesion, calcified intrahepatic plaques, had no presumed pathological significance. These cases suggest caution in the interpretation of results obtained with the new technologies used for prenatal diagnosis.