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1.
Am J Med Genet A ; 149A(8): 1734-9, 2009 Aug.
Artigo em Inglês | MEDLINE | ID: mdl-19449403

RESUMO

Congenital skin pedicles are very rare and usually described in association with multiple congenital anomalies. Here, we report on six patients with congenital pedicle skin hamartomatous lesions. Two patients showed a single skin pedicle lesion, one of whom was also shown to have 22q11.2 microdeletion syndrome, and four patients also had severe limb anomalies for which they were originally diagnosed with amniotic band sequence (ABS). We propose that all these infants instead show various forms of the phenotype resembling disorganization in the mouse. This article supports previous reports suggesting that "Disorganization-like" mutations may cause cases with apparent ABS. Owing to these reports, we propose the hypothesis that hamartomatous skin pedicles and "ABS plus" are different phenotypes of the human disorder resembling disorganization.


Assuntos
Síndrome de Bandas Amnióticas/complicações , Síndrome de Bandas Amnióticas/patologia , Anormalidades da Pele/complicações , Anormalidades da Pele/patologia , Animais , Criança , Feminino , Humanos , Lactente , Recém-Nascido , Masculino , Camundongos , Camundongos Mutantes , Fenótipo
2.
Hum Mutat ; 27(5): 496-503, 2006 May.
Artigo em Inglês | MEDLINE | ID: mdl-16619243

RESUMO

The scarcity of genomic DNA can be a limiting factor in some fields of genetic research. One of the methods developed to overcome this difficulty is whole genome amplification (WGA). Recently, multiple displacement amplification (MDA) has proved very efficient in the WGA of small DNA samples and pools of cells, the reaction being catalyzed by the phi29 or the Bst DNA polymerases. The aim of the present study was to develop a reliable, efficient, and fast protocol for MDA at the single-cell level. We first compared the efficiency of phi29 and Bst polymerases on DNA samples and single cells. The phi29 polymerase generated accurately, in a short time and from a single cell, sufficient DNA for a large set of tests, whereas the Bst enzyme showed a low efficiency and a high error rate. A single-cell protocol was optimized using the phi29 polymerase and was evaluated on 60 single cells; the DNA obtained DNA was assessed by 22 locus-specific PCRs. This new protocol can be useful for many applications involving minute quantities of starting material, such as forensic DNA analysis, prenatal and preimplantation genetic diagnosis, or cancer research.


Assuntos
DNA Polimerase Dirigida por DNA/metabolismo , Técnicas de Amplificação de Ácido Nucleico/métodos , Soluções Tampão , DNA/metabolismo , Genoma Humano , Humanos , Reação em Cadeia da Polimerase
3.
Prenat Diagn ; 24(3): 165-8, 2004 Mar.
Artigo em Inglês | MEDLINE | ID: mdl-15057946

RESUMO

Beckwith-Wiedemann syndrome (BWS) is an overgrowth syndrome associated with congenital malformations and tumour predisposition. BWS results from variable mutations or epigenetic modifications of imprinted genes in the 11p15 chromosomal region. We present a fetus with mild general overgrowth and bilateral enlarged echogenic kidneys with loss of the corticomedullary differentiation in which prenatal diagnosis of BWS was suspected. The rest of the fetal anatomy and the amniotic fluid volume appeared normal. After termination of the pregnancy, molecular analysis confirmed the diagnosis of BWS by showing an isolated hypermethylation of the H19 gene.


Assuntos
Síndrome de Beckwith-Wiedemann/diagnóstico por imagem , Cromossomos Humanos Par 11 , Metilação de DNA , Doenças Fetais/diagnóstico por imagem , RNA não Traduzido/metabolismo , Ultrassonografia Pré-Natal , Adulto , Síndrome de Beckwith-Wiedemann/genética , Síndrome de Beckwith-Wiedemann/patologia , Feminino , Doenças Fetais/genética , Humanos , Gravidez , RNA Longo não Codificante
4.
Ultrasound Obstet Gynecol ; 22(6): 648-51, 2003 Dec.
Artigo em Inglês | MEDLINE | ID: mdl-14689542

RESUMO

Cleidocranial dysplasia (CCD) is a congenital disorder of bone development characterized by persistently open or delayed closure of cranial sutures and wormian bones, hypoplastic and/or aplastic clavicles, wide pubic symphysis, dental anomalies and short stature. The condition is inherited as an autosomal-dominant trait and the human CBFA1 gene has been identified as the CCD gene. We describe a prenatal form of the skeletal disorder that included clavicular hypoplasia, absence of ossification of the cranial parietal bones and very poor ossification of the frontal and pubic bones. Growth restriction affecting only the long bones was also noted. The fetal karyotype revealed an apparently de novo balanced t(2q;6q)(q36;q16) translocation. This particular form of skeletal disorder associated with the absence of family history and an apparently de novo balanced translocation led the parents to opt for termination of the pregnancy.


Assuntos
Cromossomos Humanos Par 2 , Cromossomos Humanos Par 6 , Displasia Cleidocraniana/diagnóstico por imagem , Doenças Fetais/diagnóstico por imagem , Translocação Genética , Adulto , Displasia Cleidocraniana/genética , Feminino , Doenças Fetais/genética , Humanos , Cariotipagem , Gravidez , Ultrassonografia Pré-Natal
5.
Prenat Diagn ; 23(12): 981-4, 2003 Dec 15.
Artigo em Inglês | MEDLINE | ID: mdl-14663834

RESUMO

We report the prenatal diagnosis of a fetus with sacrococcygeal teratoma and facial dysmorphism attributed to a constitutional terminal deletion of chromosome 7q and partial trisomy of chromosome 2p likely resulting from a de novo balanced translocation. The cytogenetic abnormality was diagnosed prenatally after sonographic detection of teratoma and confirmed on peripheral blood cells at birth. The newborn died of post-operative complications at seven days of age. FISH analysis demonstrated haploinsufficiency of HLXB9, a gene identified in the triad of a presacral mass (teratoma or anterior meningocele), sacral agenesis, and anorectal malformation, which constitutes the Currarino syndrome. Despite the absence of other features of the triad, the teratoma observed in the fetus we describe might represent a partial form of Currarino syndrome.


Assuntos
Face/anormalidades , Diagnóstico Pré-Natal , Teratoma/diagnóstico , Anormalidades Múltiplas/diagnóstico , Anormalidades Múltiplas/embriologia , Anormalidades Múltiplas/genética , Adulto , Aberrações Cromossômicas/embriologia , Cromossomos Humanos Par 7 , Diagnóstico Diferencial , Evolução Fatal , Feminino , Testes Genéticos , Humanos , Hibridização in Situ Fluorescente , Gravidez , Segundo Trimestre da Gravidez , Região Sacrococcígea , Teratoma/embriologia , Teratoma/genética
6.
Prenat Diagn ; 23(2): 143-5, 2003 Feb.
Artigo em Inglês | MEDLINE | ID: mdl-12575022

RESUMO

Marker or ring X [r(X)] chromosomes of varying size are often found in patients with Turner syndrome. Patients with very small r(X) chromosomes that did not include the X-inactivation locus (XIST) have been described with a more severe phenotype. Small r(X) chromosomes are rare in males and there are only five previous reports of such cases. We report the identification of a small supernumerary X chromosome in an abnormal male fetus. Cytogenetic analysis from chorionic villus sampling was performed because of fetal nuchal translucency thickness and it showed mosaicism 46,XY/47,XY,+r(X)/48,XY,+r(X),+r(X). Fluorescence in situ hybridizations (FISH) showed the marker to be of X-chromosome origin and not to contain the XIST locus. Additional specific probes showed that the r(X) included a euchromatic region in proximal Xq. At 20 weeks gestation, a second ultrasound examination revealed cerebral abnormalities. After genetic counselling, the pregnancy was terminated. The fetus we describe is the first male with a mosaic XIST-negative r(X) chromosome identified at prenatal diagnosis. The phenotype we observed was probably the result of functional disomy of the genes in the r(X) chromosome, secondary to loss of the XIST locus.


Assuntos
Anormalidades Múltiplas/genética , Amostra da Vilosidade Coriônica/métodos , Cromossomos Humanos X , Mecanismo Genético de Compensação de Dose , Mosaicismo/genética , Cromossomos em Anel , Aborto Eugênico , Adulto , Análise Citogenética , Feminino , Aconselhamento Genético , Humanos , Hibridização in Situ Fluorescente , Masculino , Pescoço/diagnóstico por imagem , Pescoço/embriologia , Gravidez , Primeiro Trimestre da Gravidez , Ultrassonografia
7.
Am J Hum Genet ; 71(1): 180-6, 2002 Jul.
Artigo em Inglês | MEDLINE | ID: mdl-12022040

RESUMO

In the present study, we report a kindred with hearing loss, congenital heart defects, and posterior embryotoxon, segregating as autosomal dominant traits. Six of seven available affected patients manifested mild-to-severe combined hearing loss, predominantly affecting middle frequencies. Two patients were diagnosed with vestibular pathology. All patients had congenital heart defects, including tetralogy of Fallot, ventricular septal defect, or isolated peripheral pulmonic stenosis. No individual in this family met diagnostic criteria for any previously described clinical syndrome. A candidate-gene approach was undertaken and culminated in the identification of a novel Jagged 1 (JAG1) missense mutation (C234Y) in the first cysteine of the first epidermal-growth-factor-like repeat domain of the protein. JAG1 is a cell-surface ligand in the Notch signaling pathway. Mutations in JAG1 have been identified in patients with Alagille syndrome. Our findings revealed a unique phenotype with highly penetrant deafness, posterior embryotoxon, and congenital heart defects but with variable expressivity in a large kindred, which demonstrates that mutation in JAG1 can cause hearing loss.


Assuntos
Anormalidades Múltiplas/genética , Arco Senil/genética , Surdez/genética , Cardiopatias Congênitas/genética , Proteínas/genética , Sequência de Aminoácidos , Substituição de Aminoácidos , Animais , Arco Senil/congênito , Sequência de Bases , Proteínas de Ligação ao Cálcio , Cisteína/química , DNA/genética , Surdez/congênito , Feminino , Genes Dominantes , Humanos , Peptídeos e Proteínas de Sinalização Intercelular , Proteína Jagged-1 , Masculino , Proteínas de Membrana , Dados de Sequência Molecular , Mutação , Linhagem , Estrutura Terciária de Proteína , Proteínas/química , Homologia de Sequência de Aminoácidos , Proteínas Serrate-Jagged
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