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1.
J Genet Couns ; 22(6): 844-8, 2013 Dec.
Artigo em Inglês | MEDLINE | ID: mdl-23689926

RESUMO

The profession of genetic counseling in France was recognized in 2004, based on the recommendations of a mandate commissioned by the Health Minister to explore the medical demographics of France. The report predicted a shortage of health professionals in the field of genetics, particularly in light of the rapid development of molecular testing. Development of the profession was supported by a legal framework, and today 107 genetic counselors have graduated from the specific educational program which awards the Professional Master's Degree of Human Pathology, entitled Master in Genetic Counseling and Predictive Medicine. Here we will trace the development of the profession in France and review the demographic characteristics of the students and genetic counselors practicing the profession today.


Assuntos
Escolha da Profissão , Aconselhamento Genético , Currículo , Educação Profissionalizante/organização & administração , França
2.
Eur J Hum Genet ; 4(1): 8-12, 1996.
Artigo em Inglês | MEDLINE | ID: mdl-8800930

RESUMO

The fragile X syndrome is the most frequent cause of inherited mental retardation. CGG repeat alleles are usually classified as normal, premutation, or full mutation based on the length of this triplet in the 5' untranslated region of the FMR1 gene. The pattern of inheritance follows a two-stage intergenerational process in which the premutation evolves into the full mutation. Some reverse mutations have been described, but they appear to be very rare. We describe a family in which a mother of two affected males herself carried a full mutation. Surprisingly, her clinically normal daughter, initially considered to be a carrier by linkage analysis, carried a very short premutation. Findings from our family study corroborate the hypothesis that the expansion during female transmission could be a postzygotic event and raise the problem of mosaicism.


Assuntos
Síndrome do Cromossomo X Frágil/genética , Repetições de Trinucleotídeos/genética , Southern Blotting , Sondas de DNA , Feminino , Síndrome do Cromossomo X Frágil/diagnóstico , Ligação Genética , Humanos , Masculino , Mutação , Linhagem , Reação em Cadeia da Polimerase , Polimorfismo de Fragmento de Restrição , Diagnóstico Pré-Natal , Cromossomo X/genética
3.
Eur J Hum Genet ; 7(2): 131-9, 1999.
Artigo em Inglês | MEDLINE | ID: mdl-10196695

RESUMO

Angelman syndrome (AS) is a neurodevelopmental disorder caused by the absence of a maternal contribution to chromosome 15q11-q13. There are four classes of AS according to molecular or cytogenetic status: maternal microdeletion of 15q11-q13 (approximately 70% of AS patients); uniparental disomy (UPD); defects in a putative imprinting centre (IM); the fourth includes 20-30% of AS individuals with biparental inheritance and a normal pattern of allelic methylation in 15q11-q13. Mutations of UBE3A have recently been identified as causing AS in the latter group. Few studies have investigated the phenotypic differences between these classes. We compared 20 non-deletion to 20 age-matched deletion patients and found significant phenotypic differences between the two groups. The more severe phenotype in the deletion group may suggest a contiguous gene syndrome.


Assuntos
Síndrome de Angelman/genética , Síndrome de Angelman/fisiopatologia , Adolescente , Adulto , Idade de Início , Estatura , Peso Corporal , Criança , Pré-Escolar , Comunicação , Epilepsia , Genótipo , Humanos , Desenvolvimento da Linguagem , Masculino , Fenótipo , Caminhada
4.
FEBS Lett ; 321(1): 73-8, 1993 Apr 19.
Artigo em Inglês | MEDLINE | ID: mdl-7682188

RESUMO

Human tracheal gland cells are believed to be a major site at the origin of cystic fibrosis. Since this disease is due to mutations in a protein called CFTR, we looked for the activity of CFTR in human tracheal gland cells in culture. We have identified CFTR-like chloride-selective channels as having a linear current voltage relationship and unitary conductance of 7 pS in these cells. In cell-attached patches, theophylline (1 mM), IBMX (1 mM), or a cocktail of dibutyryl cAMP (1 mM) and IBMX (0.1 mM) promoted the opening of channels. The unitary current had a reversal potential close to the cell resting potential. Replacement of choline by K+ or Na+ in the pipette solution was without effect on the current-voltage relationship, the reversal potential or the unitary conductance, which is consistent with the chloride selectivity of the channel. Channels were always found clustered and their opening probability was not noticeably dependent on membrane potential. This work therefore represents the first observation of a CFTR-like channel activity in submucosal gland cells.


Assuntos
Proteínas de Membrana/metabolismo , Traqueia/metabolismo , Sequência de Bases , AMP Cíclico/metabolismo , Regulador de Condutância Transmembrana em Fibrose Cística , Condutividade Elétrica , Expressão Gênica , Humanos , Técnicas In Vitro , Proteínas de Membrana/genética , Dados de Sequência Molecular , Oligodesoxirribonucleotídeos/química , RNA Mensageiro/genética , Traqueia/anatomia & histologia , Traqueia/química
5.
Neuromuscul Disord ; 3(5-6): 493-6, 1993.
Artigo em Inglês | MEDLINE | ID: mdl-7910502

RESUMO

Prader-Willi syndrome (PWS) is a disorder characterized by neonatal hypotonia with poor suck, mild to moderate mental retardation, obesity beginning after 3 yr of age, hypogonadism and characteristic facial features. High resolution cytogenetic studies showed a deletion of the proximal chromosome 15q(q11-q13) region in approximately 50%. Interestingly, the same deletion was described in another distinct mental disorder: the Angelman syndrome (AS). This deletion was confirmed by molecular analyses, and a new mechanism was reported: uniparental disomy (maternal in PWS and paternal in AS) strongly implicate genomic imprinting in this chromosomal region. The principal aim of our group is to apply cytogenetic and molecular biology techniques to perform diagnosis and genetic counselling. Patient studies were usually based on high resolution cytogenetic analysis, quantitative Southern blotting (with D15S9, D15S11, D15S10, D15S12 loci) and dinucleotide repeat polymorphism assay by polymerase chain reaction (PCR) (IR4 .3R and GABARB3). The combination of these different methods allowed us to propose a diagnostic strategy for PWS.


Assuntos
Deleção Cromossômica , Cromossomos Humanos Par 15 , Polimorfismo de Fragmento de Restrição , Síndrome de Prader-Willi/diagnóstico , Síndrome de Prader-Willi/genética , Sequências Repetitivas de Ácido Nucleico , Síndrome de Angelman/genética , Southern Blotting , Pré-Escolar , Mapeamento Cromossômico , DNA/sangue , DNA/isolamento & purificação , Feminino , Humanos , Recém-Nascido , Masculino , Linhagem , Síndrome de Prader-Willi/patologia
6.
Am J Med Genet ; 95(4): 358-60, 2000 Dec 11.
Artigo em Inglês | MEDLINE | ID: mdl-11186890

RESUMO

We present a family with an unusual association of two frequent genetic disorders, 22q11.2 microdeletion and fragile X syndrome, originating from the same parent. Our observation confirms the wide intrafamilial clinical variability of the 22q11.2 microdeletion and illustrates the difficulty of the clinical diagnosis for the fragile X syndrome in affected females.


Assuntos
Deleção Cromossômica , Cromossomos Humanos Par 22/genética , Síndrome do Cromossomo X Frágil/genética , Núcleo Familiar , Pré-Escolar , Síndrome de DiGeorge/genética , Feminino , Humanos , Lactente , Recém-Nascido , Deficiência Intelectual/genética , Masculino , Mutação/genética , Linhagem , Gravidez , Tetralogia de Fallot/genética
7.
Am J Med Genet ; 43(1-2): 224-31, 1992.
Artigo em Inglês | MEDLINE | ID: mdl-1605195

RESUMO

We report on 3 families where the presence and segregation at high frequency of a fragile Xq27.3 site is not associated with the mutations and methylation anomalies typically seen in the fragile X [Fra(X)] syndrome. In one family, a folate insensitive fragile site was associated with Robin sequence in the propositus. In a second family a fra(X) negative mother has two fra(X) positive sons (one mentally retarded and the other newborn). The third family presents very high expression of a folate sensitive site, unlinked to mental retardation, and was described previously by Voelckel et al. [1989]. The fragile sites in these or similar families recently described must be different from the one associated with the fra(X) syndrome. Their association with a clinical phenotype or with mental retardation is certainly not consistent, and may represent an ascertainment bias. However, the relatively high frequency with which they have been found among previously diagnosed fra(X) families suggests that, at least in some cases, the association with mental impairment may be significant. In two families reported up to now, a male with high expression of such variant fra(X) site failed to transmit it to his daughter, which may reflect an imprinting effect. Previously diagnosed families should be reinvestigated before direct DNA analysis is used for prenatal or carrier diagnosis of the fra(X) syndrome.


Assuntos
Fragilidade Cromossômica , Síndrome do Cromossomo X Frágil/genética , Cromossomo X , Sítios Frágeis do Cromossomo , Feminino , Síndrome do Cromossomo X Frágil/diagnóstico , Expressão Gênica , Humanos , Deficiência Intelectual/genética , Masculino , Metilação , Linhagem , Fenótipo , Diagnóstico Pré-Natal
8.
Am J Med Genet ; 38(2-3): 374-7, 1991.
Artigo em Inglês | MEDLINE | ID: mdl-1673314

RESUMO

We report on a large family (4 generations), with 77 studied individuals, 9 mentally retarded males, and one affected female with fragile X syndrome [fra(X)]. The analysis of 6 flanking polymorphic DNA markers showed that the affection is transmitted, through the carrier daughters to the grandsons and the greatgrandsons and that the great-grandfather is a transmitting male. This observation led us to question the importance of these clinically normal males, who are nonexpressing carriers and termed transmitting males. One propositus, described as a mentally retarded young man, had inherited identical restriction polymorphisms from his mother. Chromosome analysis showed a Klinefelter syndrome, with a fragile site in 18% of the cells leading to the conclusion that the nondisjunction occurred at the first stage of the maternal meiosis.


Assuntos
Síndrome do Cromossomo X Frágil/genética , Síndrome de Klinefelter/complicações , Sondas de DNA , Feminino , Síndrome do Cromossomo X Frágil/complicações , Marcadores Genéticos , Humanos , Síndrome de Klinefelter/genética , Masculino , Não Disjunção Genética , Linhagem , Polimorfismo de Fragmento de Restrição
9.
Am J Med Genet ; 95(1): 10-2, 2000 Nov 06.
Artigo em Inglês | MEDLINE | ID: mdl-11074487

RESUMO

The urofacial syndrome (UFS) or Ochoa syndrome has been reported as a rare autosomal recessive disorder comprising a uropathy and facial abnormalities. The gene was mapped on chromosome region 10q23-q24. We report the first European cases of UFS. Haplotype analyses in our French family were compared with those previously described in patients from Columbia and America (literature data). The results are compatible with the same localization of the critical region and favor the hypothesis of genetic homogeneity.


Assuntos
Face/anormalidades , Obstrução Uretral/genética , Adolescente , Cromossomos Humanos Par 10/genética , Saúde da Família , Feminino , França , Haplótipos , Humanos , Masculino , Repetições de Microssatélites , Síndrome , Obstrução Uretral/congênito , Obstrução Uretral/patologia
10.
Clin Rheumatol ; 19(4): 262-4, 2000.
Artigo em Inglês | MEDLINE | ID: mdl-10941804

RESUMO

Co-occurrent autoimmune disease and fragile X syndrome has been reported in the literature and we have therefore studied the expansion of Cytosine-Guanine-Guanine (CGG) repeat in FMR1 gene in a series of females with autoimmune diseases such as systemic lupus erythematosus and Sjögren's syndrome, with PCR and Southern blot methods. The average length of trinucleotide repeat was not increased in these female patients as compared with controls. These preliminary data on a short series of patients suggest a possible absence of trinucleotide repeat expansion abnormality associated with autoimmune diseases such as systemic lupus erythematosus and Sjögren's syndrome.


Assuntos
Síndrome do Cromossomo X Frágil/genética , Lúpus Eritematoso Sistêmico/genética , Síndrome de Sjogren/genética , Expansão das Repetições de Trinucleotídeos/genética , Adulto , Idoso , Alelos , Southern Blotting , Feminino , Homozigoto , Humanos , Pessoa de Meia-Idade , Mutação , Reação em Cadeia da Polimerase , Polimorfismo Genético
11.
Arch Pediatr ; 1(12): 1118-26, 1994 Dec.
Artigo em Francês | MEDLINE | ID: mdl-7849899

RESUMO

The Angelman syndrome is a neurological disorder characterized by constant features: severe mental retardation, easily provoked laughter, ataxia, absent speech, seizures. Most cases are sporadic but familial cases have been reported. About 60 to 70% of cases are due to an interstitial deletion on the maternally inherited chromosome 15 in the region q11-q13. Rare cases result from paternal disomy. In 30% of patients, neither maternal by inherited deletion, nor paternal disomy, can be found. In this category of patients recurrence risk for sibs is high and molecular mechanisms are not completely known. They appear to be more complex than previously suggested. It is clear that this syndrome is a genetically heterogeneous group. The main example of genomic imprinting in human pathology, Angelman syndrome is now a model in research for understanding molecular mechanisms underlying imprinting.


Assuntos
Síndrome de Angelman , Síndrome de Angelman/diagnóstico , Síndrome de Angelman/genética , Humanos
15.
Pediatrie ; 47(11): 743-50, 1992.
Artigo em Francês | MEDLINE | ID: mdl-1364151

RESUMO

Fragile X syndromes is a disease characterized by the association of mental retardation and dysmorphic features to a fragile site on Xq27-3. It is a frequent genetic disorder (1 in 1,500 males) recognized only 20 years ago but remaining difficult to understand, because its transmission among generations does not correspond to the classical model of recessivity linked to chromosome X. In fact, carrier females can express the disease and transmitting males can be normal. With DNA probes, molecular biology has contributed to genetic counselling and prenatal diagnosis. Restriction polymorphisms have long been used to study the inheritance of fragile X syndrome and DNA markers' analysis improved risk estimates for carriers. From a clinical viewpoint, there was a need for more closely linked probes to help in prenatal diagnosis and to assess carrier status and hence reduce risk of recombination. In 1991, new probes allowed direct diagnosis of the Fra (X) mutation and a gene was sequenced. Nevertheless the understanding of the mechanism involved in the underlying mutation is still unknown. Geneticists, cytogeneticists and biologists must collaborate further to elucidate the fragile site mystery.


Assuntos
Síndrome do Cromossomo X Frágil/genética , Mapeamento Cromossômico , DNA/genética , Diagnóstico Diferencial , Feminino , Síndrome do Cromossomo X Frágil/diagnóstico , Aconselhamento Genético , Humanos , Deficiência Intelectual/diagnóstico , Deficiência Intelectual/genética , Masculino , Linhagem , Polimorfismo de Fragmento de Restrição , Diagnóstico Pré-Natal
16.
Hum Genet ; 80(4): 375-8, 1988 Dec.
Artigo em Inglês | MEDLINE | ID: mdl-2904402

RESUMO

We report an extended family in which two brothers with a fragile X chromosome are mentally retarded while a third brother with the fragile site is both phenotypically and mentally normal. The study of six probes detecting restriction fragment length polymorphisms on either sides of the fragile site Xq27 confirmed that the fragile X regions inherited by these three brothers were identical from DXS102 to the telomere. These data highlight the heterogeneity of the fragile X syndrome, which is discussed in the framework of the different hypotheses previously proposed.


Assuntos
Síndrome do Cromossomo X Frágil/genética , Ligação Genética , Deficiência Intelectual/genética , Aberrações dos Cromossomos Sexuais/genética , Criança , Sondas de DNA , Feminino , Variação Genética , Humanos , Masculino , Linhagem , Polimorfismo de Fragmento de Restrição
17.
Acta Neuropathol ; 94(1): 48-53, 1997 Jul.
Artigo em Inglês | MEDLINE | ID: mdl-9224530

RESUMO

Exercise intolerance associated with myalgias, muscle cramps or myoglobinuria may be associated with a dystrophinopathy. A search for abnormal dystrophin expression (using immunohistochemistry, immunoblot and DNA analysis) was carried out in a series of 15 patients. They were selected because they presented exercise intolerance, negative biochemical tests (lipid, glycogen and mitochondrial metabolism) and abnormal immunohistochemistry with at least one anti-dystrophin antibody (anti-Dys 1, rod domain; anti-Dys 2, C terminus; anti-Dys 3, N terminus). Lack of anti-Dys 1 immunoreactivity was seen in three patients and abnormal immunoreactivity with all three anti-dystrophin antibodies in two. Immunoblot confirmed the dystrophinopathy in these five patients only, and multiplex polymerase chain reaction DNA analysis revealed a deletion in the dystrophin gene in two of these patients, affecting the proximal part of the rod domain in one and the distal part of this domain in the other. The clinical, biological and histopathological features of the five patients reported here, together with the previous cases reported in the literature, are described and reveal that exercise intolerance associated with dystrophinopathy displays characteristic clinical, biological and immunohistochemical features and defines a new dystrophinopathy phenotype. The absence of staining in the rod domain provides a secure diagnosis of this syndrome. Dystrophinopathy is one etiology of idiopathic myoglobinuria, requiring genetic counseling.


Assuntos
Distrofina/química , Tolerância ao Exercício , Exercício Físico , Rabdomiólise/patologia , Rabdomiólise/fisiopatologia , Adolescente , Adulto , Distrofina/imunologia , Feminino , Humanos , Imuno-Histoquímica , Masculino , Pessoa de Meia-Idade , Cãibra Muscular/metabolismo , Cãibra Muscular/fisiopatologia , Músculo Esquelético/metabolismo , Músculo Esquelético/patologia , Distrofias Musculares/metabolismo , Distrofias Musculares/fisiopatologia , Mioglobinúria/metabolismo , Mioglobinúria/fisiopatologia , Rabdomiólise/metabolismo
18.
Am J Hum Genet ; 55(1): 81-6, 1994 Jul.
Artigo em Inglês | MEDLINE | ID: mdl-8023854

RESUMO

We have recently shown that the expression of the FRAXE fragile site in Xq28 is associated with the expansion of a GCC trinucleotide repeat. In the families studied, FRAXE expression is also associated with mild mental handicap. Here we present data on families that previously had been diagnosed as having the fragile X syndrome but that later were found to be negative for trinucleotide repeat expansion at the FRAXA locus. In these families we demonstrate the presence of a GCC trinucleotide repeat expansion at the FRAXE locus. Studies of the FRAXE locus of normal individuals show that they have 6-25 copies of the repeat, whereas affected individuals have > 200 copies. As in the fragile X syndrome, the amplified CpG residues are methylated in affected males.


Assuntos
Síndrome do Cromossomo X Frágil/genética , Sequências Repetitivas de Ácido Nucleico , DNA/genética , Fosfatos de Dinucleosídeos/genética , Síndrome de Down/complicações , Feminino , Síndrome do Cromossomo X Frágil/complicações , Síndrome do Cromossomo X Frágil/patologia , Humanos , Masculino , Linhagem , Fenótipo , Mapeamento por Restrição
19.
J Genet Hum ; 37(2): 127-32, 1989 Jun.
Artigo em Francês | MEDLINE | ID: mdl-2746171

RESUMO

We report linkage studies between Emery-Dreifuss muscular dystrophy (EDMD) and polymorphic probes from the long arm of chromosome X in two pedigrees. The results don't show significant linkage but are consistent with previous localisation of EDMD in Xq28. Further studies will be necessary to apply molecular biology to genetic counselling and prenatal diagnosis of this disease.


Assuntos
Ligação Genética , Distrofias Musculares/genética , Cromossomo X/análise , Sondas de DNA , Humanos , Linhagem
20.
Pediatrie ; 47(12): 821-8, 1992.
Artigo em Francês | MEDLINE | ID: mdl-1338927

RESUMO

From 1985-1991, molecular biology studies were carried out in 115 families affected with X-linked muscular dystrophy (DMD/BMD), including 59 prenatal diagnoses. The approach has changed over the last 6 years when new intragenic markers and cDNA probes became available. The polymerase chain reaction technique allows a rapid detection of dystrophin deletions, but classical Southern blot technique remains useful for restriction length polymorphism analysis. Fifty percent (42/85) of patients with DMD/BMD exhibited deletions of the dystrophin gene. In affected families with a detectable deletion, carrier detection is possible by gene dosage analysis and prenatal diagnosis is reliable. When no deletion is found, carrier detection and prenatal diagnosis depends on linkage analysis using polymorphic probes. Due to the high recombination rate, several markers need to be used. The information provided by linkage analysis must be interpreted given the proper family structure.


Assuntos
Aconselhamento Genético , Distrofias Musculares/genética , Feminino , Deleção de Genes , Humanos , Masculino , Programas de Rastreamento , Biologia Molecular , Distrofias Musculares/metabolismo , Distrofias Musculares/prevenção & controle , Gravidez , Diagnóstico Pré-Natal
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