RESUMO
In this paper we report a family where the affected DMD patients were not available for study and a molecular strategy was used for female carriers detection and for prenatal diagnosis. Linkage analysis was performed with two markers within the DMD gene, in all family members screened. DMD markers used (pERT87.8/Taq1 and pERT87.15/Xmn1) seemed not to be informative because the propositas mother (II-2) was homozygous for the minor allele at each marker (T2 and X2), however, the proposita and one sister carried only the major allele, which was inherited from the father. These results suggested that a deletion involving both markers could be present, and was inherited from the mother to both daughters. Quantitative multiplex PCR confirmed the deletion in female carriers, involving at least exons 12 to 17. DNA studies of cultured amniotic fluid cells at 14 weeks gestation, by amplification of specific Y-chromosome sequences, followed by multiplex PCR, lead to the diagnosis of a male fetus affected by DMD.
Assuntos
Heterozigoto , Distrofia Muscular de Duchenne/diagnóstico , Distrofia Muscular de Duchenne/genética , Diagnóstico Pré-Natal , Adulto , Alelos , Líquido Amniótico/metabolismo , Densitometria , Distrofina/genética , Éxons , Saúde da Família , Feminino , Deleção de Genes , Ligação Genética , Marcadores Genéticos , Homozigoto , Humanos , Masculino , Linhagem , Reação em Cadeia da Polimerase , Polimorfismo Genético , Polimorfismo de Fragmento de Restrição , Gravidez , Processos de Determinação SexualRESUMO
UNLABELLED: Preeclampsia and eclampsia are the primary causes of maternal mortality. In the state of Nuevo León, from 1990 to 1998, these conditions represented 44.1% of maternal deaths. The presence of thrombogenic substances (homocysteine, C protein, and anticardiolipin antibodies) in the mother's blood has been related to this problem. The C677T polymorphism of the enzyme methylene tetrahydrofolate reductase (MTHFR) favors the increase of homocysteine levels, while folic acid (FA) supplementation decreases its levels. OBJECTIVE: To establish the role of FA in the physiopathology of preeclampsia in our environment. KIND OF STUDY: Longitudinal, prospective and comparative. CASES: Women with severe preeclampsia and/or eclampsia (n-13). CONTROLS: Women in the third trimester of a normal pregnancy (n + 15). 20 mL Blood samples were taken during the first 24 hours of puerperium, and their AF, homocysteine and MTHFR polymorphism were measured. The t Student test and the Exact Fisher test were used to compare between both groups. RESULTS: The values obtained for homocysteine were (x + SD): CASES: 9.85 micromoles/L + 2.88, and controls: 7.61 micromoles/L + 1.32 (p < 0.04). The frequency (%) of the genetic polymorphism for MTHFR was: positive homozygotes (T/T): 38.46 vs. 20, heterozygotes (C/T): 38.46 vs. 26.6, negative homozygotes (C/C): 23 vs 53, for cases and controls, respectively. CONCLUSIONS: According to our study, the frequency of the homozygote state (T/T) of MTHFR and increased blood levels of homocysteine is greater in women suffering from preeclampsia.
Assuntos
Ácido Fólico/sangue , Homocisteína/sangue , Oxirredutases atuantes sobre Doadores de Grupo CH-NH/sangue , Pré-Eclâmpsia/sangue , Adulto , Estudos de Casos e Controles , Eclampsia/sangue , Eclampsia/enzimologia , Feminino , Genótipo , Humanos , Estudos Longitudinais , Metilenotetra-Hidrofolato Redutase (NADPH2) , Oxirredutases atuantes sobre Doadores de Grupo CH-NH/genética , Pré-Eclâmpsia/enzimologia , Gravidez , Terceiro Trimestre da Gravidez , Estudos ProspectivosRESUMO
One third of the reproductive failure with genetic aetiology are explained by chromosomal rearrangements; the purpose of the study was to find the frequency of sex chromosome anomalies in Mexican population with amenorrhea, sterility or infertility at the National Institute of Perinatology. We realized cytogenetic studies at the Genetics' laboratory in blood samples from 1st january 1984 to 31st December 1995, with the next indications: amenorrhea, sterility, infertility and history of congenital defects that suggest chromosomal anomalies and correlated with the clinical findings. From 3,201 cytogenetic studies we performed in peripheral blood samples, we detected: 61 patients with anomalies of the sex chromosomes predominantly mosaics. We found sex chromosome rearrangements in 1.5% of the patients studied, so it's important to consider this aetiology in the study of infertility and sterility.
Assuntos
Infertilidade Feminina/genética , Infertilidade Masculina/genética , Aberrações dos Cromossomos Sexuais/genética , Adolescente , Adulto , Feminino , Humanos , Cariotipagem , Masculino , MosaicismoRESUMO
We report a male patient with clinical characteristics compatible with an OFD syndrome and previously unassociated findings such as myelomeningocele, stenosis of aqueduct of Sylvius and heart anomalies, that we feel that may represent a new type of OFD syndrome (XII).
Assuntos
Síndromes Orofaciodigitais/genética , Anormalidades Múltiplas/genética , Aqueduto do Mesencéfalo/anormalidades , Fenda Labial/genética , Fissura Palatina/genética , Cardiopatias Congênitas/genética , Humanos , Recém-Nascido , Masculino , Meningomielocele/genética , Síndromes Orofaciodigitais/classificação , Síndromes Orofaciodigitais/patologia , Polidactilia/genética , Língua/anormalidadesAssuntos
Luxação Congênita de Quadril/etiologia , Líquido Amniótico , Desenvolvimento Embrionário e Fetal , Feminino , Luxação Congênita de Quadril/genética , Luxação Congênita de Quadril/prevenção & controle , Humanos , Recém-Nascido , Apresentação no Trabalho de Parto , Gravidez , Segundo Trimestre da Gravidez , Fatores de RiscoRESUMO
During a 3 and 1/2 years, 132 pregnancies were diagnosed as having a wide variety of congenital abnormalities. A high resolution ultrasound and multidisciplinary approach was used. In 95 cases fetal karyotyping was made. In this group the incidence of chromosomal abnormalities diagnosed during the period and phenotypic expression of the different types of chromosomal abnormalities was investigated. 29 abnormal karyotypes were found; 11 trisomy 18, 7 in monosomy X, 4 in trisomy 21, 3 in trisomy 13, 1 with tetraploidy (92XXYY), 1 Turner mosaic (45XO 68% 46XY 32%), 2 inversions of choromosome 9. Of the total abnormal chromosomal diagnosed during the period (N = 57), this group represented 49.2%, compared to 5 to 15% found in other risk groups. 224 congenital abnormalities were found. 43 (19%) isolated, and 181 (81%) associated. Of the 224 congenital abnormalities diagnosed, 80 (36%) were associated with chromosomal abnormalities. The most associated markers were duodenal atresia, heart defect, microcephaly, enlarged posterior fossa, and cystic hygromata. A specific markers pattern was found for each aneuploidy; heart defects for trisomy 18, holoprosencephaly and faciel cleft for trisomy 13, and cystic hygromata for monosomy X. It was concluded that the ultasound can be the most useful method to select the group of pregnant women with a higher risk of abnormal karyotype.
Assuntos
Aberrações Cromossômicas/genética , Anormalidades Congênitas/diagnóstico por imagem , Marcadores Genéticos , Complicações na Gravidez/diagnóstico por imagem , Ultrassonografia Pré-Natal , Adulto , Amniocentese , Aberrações Cromossômicas/diagnóstico por imagem , Transtornos Cromossômicos , Anormalidades Congênitas/genética , Citogenética , Feminino , Humanos , Recém-Nascido , GravidezRESUMO
A baby with stigmata of Down's syndrome was found to be a mosaic with two different cell lines: 45,XX,der(14q;21q)/46,XX,der(21q;21q)+21. The chromosome rearrangements appeared to have risen de novo. Four mechanisms are discussed for the origin of the mosaicism: dissociation of a translocation (14q;21q) chromosome already present in the 45,XX, der(14q;21q) zygote; two translocation events occurring sequentially at the first and second zygote (46,XX) divisions; a chromatid translocation in a 47,XX,+21 zygote; and an independent origin of the two cell lines.
Assuntos
Cromossomos Humanos Par 14/genética , Cromossomos Humanos Par 21/genética , Síndrome de Down/genética , Mosaicismo/genética , Translocação Genética/genética , Feminino , Humanos , Recém-Nascido , CariotipagemRESUMO
The objective was to make the confirmation-exclusion diagnosis of fetal hydrocephaly, to study its etiology and identify associated anomalies. 67 cases with suspected fetal hydrocephaly were studied at 30 weeks of mean gestational age. Serial studies of ultrasonography, TORCH serology and fetal karyotype were made. Postnatal correlation was made. 14 cases were not confirm and 53 were. 6 cases (11.3%) were classified as isolated hydrocephaly and 47 (88.7%) with associated anomalies. In this group, 15 with only intracranial anomalies and 32 intracranial and extracranial anomalies. All chromosomic anomalies were found in this latter group. Proved in all the cases of hydrocephaly and most of its associated anomalies were documented. Fetal hydrocephaly can be accurately diagnosed with the technology presently available. The diagnosis of associated anomalies is more difficult to obtain, but can be reached using serial studies and multidisciplinary approach.
Assuntos
Doenças Fetais/diagnóstico , Hidrocefalia/diagnóstico , Diagnóstico Pré-Natal , HumanosRESUMO
Reye's syndrome is considered a disease of the pediatric age. It is characterized by a prodrome of viral illness followed by vomiting and encephalopathy with associated hepatic dysfunction. This syndrome is potentially life-threatening with high morbidity and mortality rates. There are 27 other cases of adult onset Reye's syndrome reported in the literature. We describe a 18-year-old woman who developed varicella and four days later started with vomiting, delirium and in the following day she became comatose. Laboratory tests of liver function and pathology of a liver biopsy proved the diagnosis. The patient survived. A review of the proposed pathogenic mechanisms are presented. Our patient represents case the number 28 in world literature and the first in the mexican literature.