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1.
Pediatr Res ; 2024 Jun 20.
Artigo em Inglês | MEDLINE | ID: mdl-38902453

RESUMO

BACKGROUND: 'Neonatal encephalopathy' (NE) describes a group of conditions in term infants presenting in the earliest days after birth with disturbed neurological function of cerebral origin. NE is aetiologically heterogenous; one cause is peripartum hypoxic ischaemia. Lack of uniformity in the terminology used to describe NE and its diagnostic criteria creates difficulty in the design and interpretation of research and complicates communication with families. The DEFINE study aims to use a modified Delphi approach to form a consensus definition for NE, and diagnostic criteria. METHODS: Directed by an international steering group, we will conduct a systematic review of the literature to assess the terminology used in trials of NE, and with their guidance perform an online Real-time Delphi survey to develop a consensus diagnosis and criteria for NE. A consensus meeting will be held to agree on the final terminology and criteria, and the outcome disseminated widely. DISCUSSION: A clear and consistent consensus-based definition of NE and criteria for its diagnosis, achieved by use of a modified Delphi technique, will enable more comparability of research results and improved communication among professionals and with families. IMPACT: The terms Neonatal Encephalopathy and Hypoxic Ischaemic Encephalopathy tend to be used interchangeably in the literature to describe a term newborn with signs of encephalopathy at birth. This creates difficulty in communication with families and carers, and between medical professionals and researchers, as well as creating difficulty with performance of research. The DEFINE project will use a Real-time Delphi approach to create a consensus definition for the term 'Neonatal Encephalopathy'. A definition formed by this consensus approach will be accepted and utilised by the neonatal community to improve research, outcomes, and parental experience.

3.
Reprod Biomed Online ; 27(1): 81-8, 2013 Jul.
Artigo em Inglês | MEDLINE | ID: mdl-23665264

RESUMO

Since most current techniques analysing spermatozoa will inevitably exclude these gametes from further use, attempts have been made to enrich semen samples with physiological spermatozoa with good prognosis using special sperm-processing methods. A particular sperm-selection chamber, called the Zech-selector, was found to be effective in completely eliminating spermatozoa with DNA strand breaks. The aim of this study was to further analyse the subgroup of spermatozoa accumulated using the Zech-selector. In detail, the potential of the chamber to select for proper sperm morphology, DNA status and chromatin condensation was tested. Two samples, native and processed semen, of 53 patients were analysed for sperm morphology (×1000, ×6300), DNA packaging (fragmentation, chromatin condensation) and chromosomal status (X, Y, 18). Migration time (the time needed for proper sperm accumulation) was significantly correlated to fast progressive motility (P=0.002). The present sperm-processing method was highly successful with respect to all parameters analysed (P<0.001). In particular, spermatozoa showing numeric (17.4% of patients without aneuploidy) or structural chromosomal abnormalities (90% of patients without strand-breaks) were separated most effectively. To summarize, further evidence is provided that separating spermatozoa without exposure to centrifugation stress results in a population of highly physiological spermatozoa.


Assuntos
Aneuploidia , Separação Celular/métodos , Empacotamento do DNA , Motilidade dos Espermatozoides , Espermatozoides/fisiologia , Adulto , Separação Celular/instrumentação , Fragmentação do DNA , Humanos , Masculino , Pessoa de Meia-Idade , Estudos Prospectivos , Análise do Sêmen , Espermatozoides/citologia
4.
Maturitas ; 159: 15-32, 2022 05.
Artigo em Inglês | MEDLINE | ID: mdl-35337609

RESUMO

BACKGROUND: Diet has been suggested to play a role in determining the age at natural menopause; however, the evidence is inconsistent. OBJECTIVE: We systematically reviewed and evaluated published research about associations between diet and onset of natural menopause (ONM). METHODS: We searched 6 databases (Medline, Embase, Cochrane, PubMed, Web of Science and Google Scholar) through January 21,2021 to identify prospective studies assessing the association between diet and ONM. Two independent reviewers extracted data using a predesigned data-collection form. Pooled hazard risks (HRs) were calculated using random effect models. RESULTS: Of the 6,137 eligible references we reviewed, we included 15 articles in our final analysis. Those 15 articles included 91,554 women out of 298,413 who experienced natural menopause during follow-up. Overall, there were 89 food groups investigated, 38 macronutrients and micronutrients, and 6 dietary patterns. Among the food groups, higher intake of green and yellow vegetables was associated with earlier age of ONM, while high intakes of some dairy products, such as low-fat, skimmed milk, and low intake of alcohol were associated with a later onset. We observed no consistent association between macronutrient and micronutrient intake and ONM. Our results suggests that a vegetarian diet could be associated with early ONM; we did not observe any other consistent effect from other dietary patterns. Limitations included the number of studies, lack of replication studies and the research being of an observational nature; most studies (11/15) were at medium risk of bias. CONCLUSION: Although some food items were associated with ONM, the overall evidence about associations between diet and ONM remains controversial. Prospero id: CRD42021232087.


Assuntos
Laticínios , Menopausa , Dieta/efeitos adversos , Feminino , Humanos , Estudos Prospectivos
5.
Nutrients ; 13(8)2021 Jul 26.
Artigo em Inglês | MEDLINE | ID: mdl-34444718

RESUMO

Cardiovascular disease (CVD) and type 2 diabetes (T2D) remain the top disease and mortality burdens worldwide. Oats have been shown to benefit cardiovascular health and improve insulin resistance. However, the evidence linking oat consumption with CVD, T2D and all-cause mortality remains inconclusive. We conducted a comprehensive systematic review and meta-analysis of prospective cohort studies to evaluate the associations between oat consumption and risks of T2D, CVD and all-cause mortality in the general population. Five electronic databases were searched until September, 2020. Study specific relative risks (RR) were meta-analyzed using random effect models. Of 4686 relevant references, we included 9 articles, based on 8 unique studies and 471,157 participants. Comparing oat consumers versus non-consumers, RRs were 0.86 (95% CI 0.72-1.03) for T2D incidence and 0.73 (95% CI 0.5-1.07) for combined CVD incidence. Comparing participants with highest versus lowest oat intake, RRs were 0.78 (95% CI 0.74-0.82) for T2D incidence, 0.81 (95% CI 0.61-1.08) for CHD incidence and 0.79 (95% CI 0.59-1.07) for stroke. For all-cause mortality one study based on three cohorts found RR for men and women were 0.76 (95% CI 0.69-0.85) and 0.78 (95% CI 0.70-0.87), respectively. Most studies (n = 6) were of fair to good quality. This meta-analysis suggests that consumption of oat could reduce the risk for T2D and all-cause mortality, while no significant association was found for CVD. Future studies should address a lack of standardized methods in assessing overall oat intake and type of oat products, and investigate a dose-dependent response of oat products on cardiometabolic outcomes in order to introduce oat as preventive and treatment options for the public.


Assuntos
Avena , Doenças Cardiovasculares/epidemiologia , Diabetes Mellitus Tipo 2/epidemiologia , Mortalidade , Grãos Integrais , Doenças Cardiovasculares/prevenção & controle , Diabetes Mellitus Tipo 2/prevenção & controle , Feminino , Humanos , Incidência , Masculino , Risco , Acidente Vascular Cerebral/epidemiologia , Acidente Vascular Cerebral/prevenção & controle
6.
Psychoneuroendocrinology ; 101: 160-166, 2019 03.
Artigo em Inglês | MEDLINE | ID: mdl-30465968

RESUMO

Objectives The gut microbiome harbors substantially more genetic material than our body cells and has an impact on a huge variety of physiological mechanisms including the production of neurotransmitters and the interaction with brain functions through the gut-brain-axis. Products of microbiota can affect methylation according to preclinical studies. The current investigation aimed at analyzing the correlation between gut microbiome diversity and the methylation of the clock gene ARNTL in individuals with Bipolar Disorder (BD). Methods Genomic DNA was isolated from fasting blood of study participants with BD (n = 32). The methylation analysis of the ARNTL CG site cg05733463 was performed by bisulfite treatment of genomic DNA with the Epitect kit, PCR and pyrosequencing. Additionally, DNA was extracted from stool samples and subjected to 16S rRNA sequencing. QIIME was used to analyze microbiome data. Results Methylation status of the ARNTL CpG position cg05733463 correlated significantly with bacterial diversity (Simpson index: r= -0.389, p = 0.0238) and evenness (Simpson evenness index: r= -0.358, p = 0.044). Furthermore, bacterial diversity differed significantly between euthymia and depression (F(1,30) = 4.695, p = 0.039). Discussion The results of our pilot study show that bacterial diversity differs between euthymia and depression. Interestingly, gut microbiome diversity and evenness correlate negatively with methylation of ARNTL, which is known to regulate monoamine oxidase A transcription. We propose that alterations in overall diversity of the gut microbiome represent an internal environmental factor that has an epigenetic impact on the clock gene ARNTL which is thought to be involved in BD pathogenesis.


Assuntos
Fatores de Transcrição ARNTL/genética , Transtorno Bipolar/genética , Transtorno Bipolar/microbiologia , Fatores de Transcrição ARNTL/metabolismo , Adulto , Transtorno Bipolar/fisiopatologia , Ritmo Circadiano/genética , Ritmo Circadiano/fisiologia , Metilação de DNA , Depressão/genética , Transtorno Depressivo/genética , Epigênese Genética/genética , Epigenômica/métodos , Feminino , Microbioma Gastrointestinal/genética , Microbioma Gastrointestinal/fisiologia , Humanos , Masculino , Microbiota/genética , Pessoa de Meia-Idade , Projetos Piloto , RNA Ribossômico 16S/genética
7.
Clin Genet ; 73(5): 492-5, 2008 May.
Artigo em Inglês | MEDLINE | ID: mdl-18341605

RESUMO

A great number of syndromes and inborn errors of metabolism associated with impaired development have been observed, but the aetiology of mental retardation remains unclear in a considerable proportion of cases. Here, we present the clinical and molecular data from a patient with a new de novo subtelomeric deletion on chromosome 20 [46,XX.ish del(20)(qter-)]. For further refinement, bacterial artificial chromosome clones are used. The deletion spans exactly two genes called MYT1 and PCMTD2. Both genes play an important role in myelination and regulating neural differentiation. Loss of these two genes seems to be responsible for the severe mental retardation and mild facial dysmorphic features in our young patient. It might show the phenotypic picture of this specified deletion.


Assuntos
Deleção Cromossômica , Cromossomos Humanos Par 20/genética , Deficiência Intelectual/genética , Telômero/genética , Pré-Escolar , Proteínas de Ligação a DNA/deficiência , Feminino , Humanos , Fatores de Transcrição/deficiência
8.
J Mol Neurosci ; 33(2): 151-4, 2007.
Artigo em Inglês | MEDLINE | ID: mdl-17917073

RESUMO

Basal ganglia calcification (striatopallidodentate calcifications) can be caused by several systemic and neurological disorders. Familial Idiopathic Basal Ganglia Calcification (IBGC, "Fahr's disease"), is characterized by basal ganglia and extrabasal ganglia calcifications, parkinsonism and neuropsychiatric symptoms. Because of an increased use of neuroimaging procedures, calcifications of the basal ganglia are visualized more often and precociously. In 1999, a major American family with IBGC was linked to a locus on chromosome 14q (IBGC1). Another small kindred, from Spain, has also been reported as possibly linked to this locus. Here we report the main findings of the first 30 candidate genes sequenced at the IBGC1 locus during the process of searching for a mutation responsible for familial IBGC. During the sequencing process, we identified a heterozygous nonsynonymous single nucleotide polymorphism (exon 20 of the MGEA6/c-TAGE gene) shared by the affected and not present in the controls. This SNP was randomly screened in the general population (348 chromosomes) in a minor allele frequency to 0.0058 (two heterozygous among 174 subjects). Another variation in this gene, in the exon 9, was found in the Spanish family. However, this variation was extremely common in the general population. Functional and population studies are necessary to fully access the implications of the MGEA6 gene in familial IBGC, and a complete sequencing of the IBGC1 locus will be necessary to define a gene responsible for familial IBGC.


Assuntos
Doenças dos Gânglios da Base , Calcinose , Doenças dos Gânglios da Base/genética , Doenças dos Gânglios da Base/patologia , Calcinose/genética , Calcinose/patologia , Análise Mutacional de DNA , Ligação Genética , Predisposição Genética para Doença , Humanos , Mutação , Polimorfismo de Nucleotídeo Único
9.
Genet Couns ; 18(1): 9-16, 2007.
Artigo em Inglês | MEDLINE | ID: mdl-17515297

RESUMO

We describe a 4-year-old boy with various facial dysmorphic features such as downslanting palpebral fissures, ptosis, hypertelorism, broad nasal bridge, small and low-set ears, broad philtrum, and micrognathia. In addition, profound mental retardation, myopia, muscular hypotonia as well as genital and cardiovascular abnormalities are also present. Refinement of the breakpoints by cytogenetic techniques, in particular the increase of banding resolution in conventional cytogenetic analysis, has enabled the correct diagnosis, as proven by fluorescence in situ hybridisation (FISH) using whole chromosome painting and single copy probes. We were able to demonstrate an unbalanced translocation that the patient inherited from his father resulting in a submicroscopic monosomy 16p13.3 and a trisomy 2p24.2-pter.


Assuntos
Anormalidades Múltiplas/genética , Cromossomos Humanos Par 16 , Cromossomos Humanos Par 2 , Monossomia/genética , Translocação Genética , Trissomia/genética , Anormalidades Múltiplas/patologia , Pré-Escolar , Bandeamento Cromossômico , Análise Citogenética , Humanos , Hibridização in Situ Fluorescente , Cariotipagem , Masculino , Fenótipo
10.
Cytogenet Genome Res ; 115(1): 84-9, 2006.
Artigo em Inglês | MEDLINE | ID: mdl-16974087

RESUMO

We report on a currently six-year-old patient with a de novo complex chromosome rearrangement (CCR) involving chromosomes 2 and 12. A translocation 2;12 that appeared to be reciprocal after standard banding turned out to be a complex event with seven breaks after molecular cytogenetic analyses. Array CGH analysis showed no imbalances at the breakpoints but revealed an additional microdeletion of about 80 kb on chromosome 11. The same deletion was also present in the phenotypically normal father. The patient showed relatively mild mental retardation, defined mainly as impaired speech development (orofacial dyspraxia) and psychomotor retardation. In addition, mild dysmorphic facial features like hypertelorism, a prominent philtrum and down-turned corners of the mouth were observed. We narrowed down all breakpoint regions to about 100 kb, using a panel of mapped bacterial artificial chromosome (BAC) clones for fluorescence in situ hybridization (FISH). BACs spanning or flanking all seven breakpoints were identified and no chromosomal imbalances were found consistent with the array CGH results. Our investigations resulted in the following karyotype: 46,XY,t(2;12)(2pter-->2p25.3::2p23.3-->2p25.2::2p23.3-->2p14::2q14.3-->2p14::2q14.3-->2q14.3::12q 12-->12qter;12pter-->12q12::2p25.3-->2p25.2::2q14.3-->2qter).


Assuntos
Cromossomos Humanos Par 12 , Cromossomos Humanos Par 2 , Deficiência Intelectual/genética , Distúrbios da Fala/genética , Translocação Genética , Criança , Aberrações Cromossômicas , Quebra Cromossômica , Cromossomos Artificiais Bacterianos , Cromossomos Humanos Par 11 , Análise Citogenética , Face/anormalidades , Saúde da Família , Humanos
11.
Hum Immunol ; 76(11): 863-7, 2015 Nov.
Artigo em Inglês | MEDLINE | ID: mdl-26431889

RESUMO

We investigated HLA-A, HLA-B, and HLA-DRB1 gene frequencies in 1368 unrelated Austrian umbilical cord blood samples. HLA-C gene frequencies were investigated in a subgroup of 503 samples. HLA typing was performed via sequenced-based typing (SBT). The aim of this study was to examine the HLA diversity in a large Austrian population sample. In addition we present results of a subsample of 100 samples at a subtype level. This study is the first systematic investigation of donated umbilical cord blood samples in the Austrian population.


Assuntos
Alelos , Sangue Fetal , Frequência do Gene , Antígenos HLA/genética , Áustria , Sangue Fetal/citologia , Ligação Genética , Genética Populacional , Antígenos HLA-A/genética , Antígenos HLA-B/genética , Antígenos HLA-C/genética , Cadeias HLA-DRB1/genética , Haplótipos , Teste de Histocompatibilidade , Humanos , Desequilíbrio de Ligação
12.
Am J Med Genet ; 102(3): 243-9, 2001 Aug 15.
Artigo em Inglês | MEDLINE | ID: mdl-11484201

RESUMO

Here we describe five patients with Greig cephalopolysyndactyly syndrome (GCPS), including one pair of monozygotic twin boys with a de novo microdeletion involving the chromosomal band 7p13, where various clinical manifestations, in addition to GCPS, were recognized. Besides the twin pair, all patients are unrelated. Since there is a considerable lack of well-defined clinical delineation of the few patients with microdeletions involving 7p13 with GCPS described so far, we focus on the symptoms that are not typically related to GCPS, such as moderate psychomotor retardation, seizures, muscle fiber anomalies, cardiac anomalies, hyperglycemia, and hirsutism. Our observations suggest that in all cases of atypical GCPS, the presence of a cytogenetically detectable microdeletion or a submicroscopic deletion of 7p13 should be suspected.


Assuntos
Anormalidades Múltiplas/genética , Deleção Cromossômica , Cromossomos Humanos Par 7/genética , Anormalidades Craniofaciais/patologia , Sindactilia/patologia , Anormalidades Múltiplas/patologia , Adolescente , Pré-Escolar , Feminino , Humanos , Hibridização in Situ Fluorescente , Lactente , Masculino , Fenótipo , Síndrome , Gêmeos Monozigóticos
13.
Am J Med Genet ; 84(3): 229-32, 1999 May 28.
Artigo em Inglês | MEDLINE | ID: mdl-10331598

RESUMO

In most cases the fragile X syndrome is caused by an amplification of the CGG trinucleotide repeat in the 5' untranslated region of the FMR1 gene, in combination with the hypermethylation of the proximal CpG island. Recently, also a few cases with deletions or a mosaic of a deletion and a full mutation in the FMR1 gene, leading to the same phenotype, have been described. Here we report the molecular analysis of a patient with typical fragile X phenotype and mosaicism of the FMR1 genomic region consisting of a premutation, a full mutation of the CGG repeats, and a 215 bp deletion, diagnosed by Southern blot hybridisation and polymerase chain reaction (PCR). Sequence analysis of the deletion demonstrated that the 5' breakpoint of the deletion is located within a putative hotspot region 75-53 bp proximal to the CGG repeat.


Assuntos
Síndrome do Cromossomo X Frágil/genética , Deleção de Genes , Mosaicismo/genética , Proteínas do Tecido Nervoso/genética , Proteínas de Ligação a RNA , Adulto , Sequência de Bases , Southern Blotting , Proteína do X Frágil da Deficiência Intelectual , Humanos , Masculino , Dados de Sequência Molecular , Reação em Cadeia da Polimerase
14.
Am J Med Genet ; 104(4): 312-8, 2001 Dec 15.
Artigo em Inglês | MEDLINE | ID: mdl-11754067

RESUMO

We report the clinical and molecular cytogenetic characterization of two patients with partial trisomy 1q. The first patient is a currently 11-year-old female proposita with a de novo unbalanced translocation 46,XX,der(8)(8qter-8p23.3::1q41-1qter), leading to a partial trisomy 1q41-qter and a partial monosomy for 8p23.3-pter. The most prominent clinical features of the girl are a triangular face, almond-shaped eyes, low-set ears, short stature with relatively long legs, and mild psychomotor retardation. To our knowledge, the cytogenetic aberration in this girl is the most proximal partial trisomy 1q leading to a mild phenotype. Recently, we identified a second patient with a similar partial trisomy 1q combined with a cri du chat syndrome caused by a de novo unbalanced translocation 46,XX,der(5)(5qter-5p13.1::1q41-1qter). Comparison of the phenotype of the two girls as well as with already published trisomy 1q cases was performed, and fluorescence in situ hybridization probes from selected YACs were used to delineate the extent of the partial trisomy in more detail.


Assuntos
Cromossomos Humanos Par 1/genética , Trissomia , Criança , Pré-Escolar , Bandeamento Cromossômico , Cromossomos Humanos Par 8/genética , Análise Citogenética , Evolução Fatal , Feminino , Humanos , Hibridização in Situ Fluorescente , Lactente , Cariotipagem , Fenótipo , Síndrome , Translocação Genética
15.
Am J Med Genet ; 101(3): 259-61, 2001 Jul 01.
Artigo em Inglês | MEDLINE | ID: mdl-11424142

RESUMO

Gilles de la Tourette Syndrome (GTS) is a complex neuropsychiatric disorder characterized by motor and vocal tics. The cause of this syndrome is unknown, although based on family studies there is evidence of a strong genetic component. We report on a 13-year-old boy with GTS, minor physical anomalies, and a de novo partial duplication of chromosome 7q [dup(7)(q22.1-q31.1)]. The distal breakpoint in our patient is similar to the breakpoint of an apparently balanced familial translocation t(7;18) segregating with GTS. Together, these cases provide evidence that a gene located in the breakpoint region at 7q31 can be involved in the formation of GTS.


Assuntos
Cromossomos Humanos Par 7/genética , Síndrome de Tourette/genética , Adolescente , Aberrações Cromossômicas , Bandeamento Cromossômico , Análise Citogenética , Duplicação Gênica , Humanos , Masculino , Síndrome de Tourette/patologia
16.
Cancer Genet Cytogenet ; 129(1): 76-9, 2001 Aug.
Artigo em Inglês | MEDLINE | ID: mdl-11520571

RESUMO

We report a 59-year-old, male, chronic myeloid leukemia patient with a rare variant Philadelphia (Ph) translocation t(9;10;22)(q34;q22;q11). Fluorescence in situ hybridization with whole chromosome paints was used to confirm the cytogenetic findings. With a BCR/ABL-specific probe, the known rearrangement on the derivative chromosome 22 was found. The prognostic implications as well as the relevance of the additional breakpoint region 10q22 are discussed.


Assuntos
Cromossomos Humanos Par 10 , Cromossomos Humanos Par 22 , Cromossomos Humanos Par 9 , Leucemia Mielogênica Crônica BCR-ABL Positiva/genética , Cromossomo Filadélfia , Translocação Genética , Humanos , Masculino , Pessoa de Meia-Idade
17.
Genet Couns ; 13(3): 303-7, 2002.
Artigo em Inglês | MEDLINE | ID: mdl-12416638

RESUMO

A new-born infant was found to have multiple congenital anomalies Including bilateral cleft of lip and palate, club-hands and feet, and heart defects. High resolution chromosome analysis showed a de novo tandem duplication of the terminal part of the short arm of chromosome 16, resulting in a dup(16)(pter-->p13). Fluorescent in situ hybridization with a chromosome 16-specific paint confirmed that the extra material belonged to chromosome 16.


Assuntos
Anormalidades Múltiplas/genética , Cromossomos Humanos Par 16/ultraestrutura , Aberrações Cromossômicas , Fenda Labial/genética , Fissura Palatina/genética , Deformidades Congênitas do Pé/genética , Deformidades Congênitas da Mão/genética , Humanos , Recém-Nascido , Cariotipagem , Masculino , Sequências de Repetição em Tandem , Trissomia
18.
Genet Couns ; 13(1): 29-33, 2002.
Artigo em Inglês | MEDLINE | ID: mdl-12017235

RESUMO

Duplication of distal 4p results in a recognizable clinical phenotype. We report here on a 3 year old girl with a de novo inverse duplication of the chromosome segment 4p16.3-p15.3. The symptoms in this patient are milder than those of previously described patients with 4p duplication syndrome and include a deep hairline, deep-set eyes, short pug nose, full cheeks, simian crease, clinodactily of the fifth digit, no speech development and a moderate psychomotor retardation. Fluorescence in situ hybridization (FISH) using a chromosome 4 painting probe confirmed that the extra material is of chromosome 4 origin. Further analysis with the Wolf-Hirschhorn critical region probe demonstrated the duplication of this region. The lysosomal hydrolase alpha-L-iduronidase (IDUA) gene which is mutated in mucopolysaccaridosis type I (MPS I) and mapped to 4p16.3 might be responsible for some of the MPS like facial features. A phenotype-genotype correlation analysis in combination with literature review was undertaken to allow a further delineation of partial trisomy 4p syndromes.


Assuntos
Anormalidades Múltiplas/genética , Cromossomos Humanos Par 4 , Face/anormalidades , Deficiência Intelectual/genética , Trissomia , Pré-Escolar , Feminino , Dedos/anormalidades , Humanos , Mucopolissacaridose I/genética , Síndrome
19.
Genet Couns ; 14(2): 239-44, 2003.
Artigo em Inglês | MEDLINE | ID: mdl-12872820

RESUMO

Trisomy 18 is the second most frequent autosomal aneuploidy affecting about 1 in 8,000 new-borns. Similar to trisomy 13 more than 90% of the patients die within the first year. Main causes of death are failure of vital organ function, in most cases of brain, heart, kidney, and gut, sometimes combined with severe infections. The degree to which essential organs are affected at birth and the clinical course differ considerably. Unknown genetic factors and various environmental effects are most likely involved. A less severe course of Edwards syndrome can be caused by a partial trisomy due to a deletion of the extra chromosome 18 or somatic mosaicism with a trisomic and a normal cell-line in the patient. In this report conventional chromosome analysis, FISH, and QF-PCR have been performed on a 19-year-old female patient with trisomy 18 to investigate a large number of cells including non-mitotic cells from various different tissues. This study supports evidence for an apparently pure form of trisomy 18 in this "long-living" patient with Edwards syndrome.


Assuntos
Cromossomos Humanos Par 18/genética , Taxa de Sobrevida , Trissomia/genética , Adolescente , Aneuploidia , Mapeamento Cromossômico , Cromossomos Humanos Par 13/genética , Feminino , Humanos , Reação em Cadeia da Polimerase , Síndrome
20.
Clin Dysmorphol ; 9(1): 55-7, 2000 Jan.
Artigo em Inglês | MEDLINE | ID: mdl-10649799

RESUMO

Chromosomal microdissection and subsequent application of the generated probe for FISH (microFISH) allowed the characterization of a small extra band found by routine cytogenetic analysis on the short arm of chromosome 19 in a mentally retarded boy with various dysmorphic features. There is no cytogenetically visible loss of chromosome 19 material as verified by hybridization results using a subtelomeric probe for this region and therefore all anomalies found in the patient are most likely due to the partial trisomy of 22q13-qter. The approach used in this study should be generally applicable in comparable cases and allows a fast and straightforward identification of the origin of extra chromosomal material, which otherwise is very laborious or difficult to characterize. Clinical features of this 9-year-old patient such as mental and motor retardation, microcephaly, microphthalmia and hypogenitalism are compared with other cases showing this rare chromosomal aberration.


Assuntos
Anormalidades Múltiplas/genética , Cromossomos Humanos Par 22 , Hibridização in Situ Fluorescente/métodos , Trissomia , Pré-Escolar , Bandeamento Cromossômico , Humanos , Cariotipagem , Masculino , Reação em Cadeia da Polimerase
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