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1.
Clin Genet ; 85(3): 233-44, 2014 Mar.
Artigo em Inglês | MEDLINE | ID: mdl-23489061

RESUMO

Small supernumerary marker chromosomes (sSMCs) are structurally abnormal chromosomes that cannot be characterized by karyotype. In many prenatal cases of de novo sSMC, the outcome of pregnancy is difficult to predict because the euchromatin content is unclear. This study aimed to determine the presence or absence of euchromatin material of 39 de novo prenatally ascertained sSMC by array-comparative genomic hybridization (array-CGH) or single nucleotide polymorphism (SNP) array. Cases were prospectively ascertained from the study of 65,000 prenatal samples [0.060%; 95% confidence interval (CI), 0.042-0.082]. Array-CGH showed that 22 markers were derived from non-acrocentric markers (56.4%) and 7 from acrocentic markers (18%). The 10 additional cases remained unidentified (25.6%), but 7 of 10 could be further identified using fluorescence in situ hybridization; 69% of de novo sSMC contained euchromatin material, 95.4% of which for non-acrocentric markers. Some sSMC containing euchromatin had a normal phenotype (31% for non-acrocentric and 75% for acrocentric markers). Statistical differences between normal and abnormal phenotypes were shown for the size of the euchromatin material (more or less than 1 Mb, p = 0.0006) and number of genes (more or less than 10, p = 0.0009). This study is the largest to date and shows the utility of array-CGH or SNP array in the detection and characterization of de novo sSMC in a prenatal context.


Assuntos
Aberrações Cromossômicas , Aconselhamento Genético , Predisposição Genética para Doença , Prognóstico , Adulto , Hibridização Genômica Comparativa , Feminino , França , Estudos de Associação Genética , Marcadores Genéticos , Estudo de Associação Genômica Ampla , Humanos , Hibridização in Situ Fluorescente , Cariótipo , Pessoa de Meia-Idade , Polimorfismo de Nucleotídeo Único , Gravidez , Diagnóstico Pré-Natal , Estudos Prospectivos , Risco , Suíça , Adulto Jovem
7.
Am J Med Genet A ; 149A(3): 475-81, 2009 Mar.
Artigo em Inglês | MEDLINE | ID: mdl-19213026

RESUMO

Polymicrogyria (PMG) is a relatively common malformation of the cortex for which the pathogenesis remains poorly understood. Both acquired and genetic causes are known, and to date more than 70 cases of PMG have been associated with chromosomal abnormalities. Here we report on a 12-year-old girl presenting with asymmetrical PMG predominantly affecting the right occipital lobe. She was the only child of consanguineous parents. At 7 years of age she was referred for mental retardation with speech delay and seizures. Cytogenetic studies of the patient revealed an inverted 9p duplication/deletion and bacterial artificial chromosomes (BACs)-array also showed a 22q11.2 microduplication confirmed by quantitative PCR. This case is of interest in the search for candidate genes and emphasizes the importance of the 22q11 region in PMG. It also highlights the efficiency of BACs-array in detecting complex rearrangements.


Assuntos
Aberrações Cromossômicas , Deleção Cromossômica , Cromossomos Humanos Par 22 , Cromossomos Humanos Par 9 , Malformações do Desenvolvimento Cortical/genética , Criança , Quebra Cromossômica , Coloração Cromossômica , Cromossomos Artificiais Bacterianos , Análise Citogenética , Feminino , Humanos , Hibridização In Situ , Cariotipagem , Hibridização de Ácido Nucleico , Análise de Sequência com Séries de Oligonucleotídeos , Mapeamento Físico do Cromossomo , Reação em Cadeia da Polimerase
8.
Am J Med Genet A ; 146A(16): 2109-15, 2008 Aug 15.
Artigo em Inglês | MEDLINE | ID: mdl-18629884

RESUMO

Genosensor Array 300 (Abbott) is a multiplex platform for array-based comparative genomic hybridization that detects unbalanced genomic aberrations including whole chromosome gains/losses, microdeletions, duplications and unbalanced subtelomeric rearrangements. A series of 30 patients with unexplained mental retardation, dysmorphic features, congenital abnormalities and normal high resolution karyotype and FISH subtelomeric studies were analyzed using Genosensor Array 300 array-CGH. We identified a chromosomal aberration in one patient with an interstitial 1p31.1 deletion. FISH analysis with BACs specific probes of the 1p region confirmed the interstitial 1p22.2-p31.1 deletion. The patient was a 20-year-old man with short stature, facial dysmorphism including asymmetry, scoliosis, severe psychomotor delay and an epibulbar dermoid cyst. The phenotype was compatible with Goldenhar syndrome despite the absence of asymmetric ears. This observation is of interest since it could be a clue in the search for the genes responsible for Goldenhar syndrome. This study demonstrates the utility of the array-CGH technology in detecting interstitial deletions.


Assuntos
Deleção Cromossômica , Cromossomos Humanos Par 1/genética , Síndrome de Goldenhar/genética , Deficiência Intelectual/genética , Adolescente , Adulto , Criança , Pré-Escolar , Deficiências do Desenvolvimento/genética , Feminino , Humanos , Hibridização in Situ Fluorescente , Cariotipagem , Masculino , Pessoa de Meia-Idade , Análise de Sequência com Séries de Oligonucleotídeos
9.
Eur J Med Genet ; 50(6): 455-64, 2007.
Artigo em Inglês | MEDLINE | ID: mdl-17720646

RESUMO

We report on a 26-year-old patient presenting with extremely short stature (height 72cm, weight 6.5kg, OFC 42.5cm), facial dysmorphism, cleft lip--palate, severe mental retardation and de novo 1q24.2--q25.2 and 12q24.31 interstitial deletion. He was the only child of non-consanguineous parents and his birth length was 43cm. He had severe feeding difficulties and required enteral nutrition until the age of 3 years. Standard cytogenetic analysis showed an apparently balanced de novo translocation t(1;12)(q24;q24). Endocrine studies at 11 years of age for severe growth retardation revealed multiple pituitary hormone deficiency with severe growth hormone deficiency, but the child was untreated because of associated mental retardation. At 26 years of age, he could not walk or speak and had no signs of puberty. Investigations revealed spondylo-epi-metaphyseal dysplasia with severe osteoporosis, enlarged aorta when compared to the patient's size and apparently normal pituitary development. High resolution karyotype showed a 1q24-q25 deletion, and comparative genomic hybridization studies confirmed the 1q interstitial deletion. FISH studies of both breakpoints using PACs and BACs enabled us to further characterize the 1q interstitial deletion (1q24.2-1q25.2) and also revealed a 12q24.31 interstitial microdeletion. This case is compared with previously reported patients with similar deletions, but the untreated pituitary deficiency could also be responsible in part for the severity of the growth deficiency. This observation is of interest for two reasons. First, these deletions could be a clue in the search for a gene responsible for growth hormone deficiency/midline defects. Second, it shows the importance of molecular cytogenetics in the study of de novo apparently balanced translocation with abnormal phenotype.


Assuntos
Doenças do Desenvolvimento Ósseo/genética , Cromossomos Humanos Par 12/genética , Cromossomos Humanos Par 1/genética , Fenda Labial/genética , Fissura Palatina/genética , Transtornos do Crescimento/genética , Hormônio do Crescimento/deficiência , Deficiência Intelectual/genética , Translocação Genética/genética , Adulto , Humanos , Hibridização in Situ Fluorescente , Cariotipagem , Masculino
10.
Am J Med Genet A ; 143A(12): 1342-7, 2007 Jun 15.
Artigo em Inglês | MEDLINE | ID: mdl-17506096

RESUMO

Constitutional interstitial deletions of 5q are relatively rare and most are poorly characterized cytogenetically. Consequently a definite karyotype-phenotype correlation is difficult to establish. We report on a new case of a girl presenting with an abnormal cry, upslanting palpebral fissures, hypertelorism, anteverted nostrils, microretrognathia, growth retardation, and an adenoid cyst at the base of the tongue. The first suspected diagnosis was cri-du-chat syndrome because of the mewing cry. Standard cytogenetic analyses were interpreted as normal, but FISH studies using the probe of cri-du-chat syndrome with the control probe EGR1 (5q31.2)/D5S23 (Abbott) revealed a 5q31.2 microdeletion which was then confirmed by CGH-array (Abbott). FISH studies using PACs and BACs clones (Rocchi, Italia) enabled us to characterize the breakpoints of the deleted region. Cytogenetic analysis with FISH studies revealed a normal karyotype with normal 5q31 region in both parents. This case is compared with the other cases reported in the literature.


Assuntos
Deleção Cromossômica , Cromossomos Humanos Par 5/genética , Síndrome de Cri-du-Chat/genética , Fenótipo , Síndrome de Cri-du-Chat/patologia , Análise Citogenética , Feminino , Humanos , Hibridização in Situ Fluorescente , Lactente , Hibridização de Ácido Nucleico
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