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1.
Article in Chinese | WPRIM | ID: wpr-922025

ABSTRACT

OBJECTIVE@#To analyze the molecular genetics of a Chinese pedigree with congenital hand foot cleft.@*METHODS@#Single nucleotide polymorphism microarray (SNP array) was used to analyze the whole genome copy number variation.@*RESULTS@#SNP array analysis showed that there was a 433 kb repeat in 10q24.31-10q24.32 region, which contained LBX1, BTRC, POLL, OPCD and FBXW4 genes.@*CONCLUSION@#Microduplication of chromosome 10q24.31-10q24.32 may be the cause of congenital hand foot cleft in this pedigree.


Subject(s)
China , DNA Copy Number Variations/genetics , Foot Deformities, Congenital/genetics , Hand Deformities, Congenital/genetics , Humans , Pedigree
2.
Article in Chinese | WPRIM | ID: wpr-888366

ABSTRACT

OBJECTIVE@#To explore the genetic etiology for a fetus with congenital orofacial cleft.@*METHODS@#Single nucleotide polymorphism microarray (SNP array) was carried out on skin tissues sampled from the fetus following induced abortion for the detection of copy number variation (CNVs). Pathogenicity of the candidate gene was validated through experiment.@*RESULTS@#SNP array revealed that the fetus has carried a hemizygous 9.23Mb deletion at Xq21.31-q22.1(91 063 807-100 293 555), which was inherited from its mother. The region contained 13 OMIM genes and 1 ncRNA coding gene(MIR548M). Inhibiting of the expression of the MIR548M gene in oral epithelial celllines has resulted in up-regulation of the expression of SUMO1 gene which was known to involve in the pathogenesis of orofacial cleft.@*CONCLUSION@#Dosage insufficiency of the MIR548M gene may underlie the etiology of orofacial cleft in this fetus.


Subject(s)
Cleft Lip/genetics , Cleft Palate/genetics , DNA Copy Number Variations/genetics , Female , Fetus , Humans , MicroRNAs/genetics , Polymorphism, Single Nucleotide , Pregnancy , SUMO-1 Protein
3.
Mem. Inst. Oswaldo Cruz ; 115: e190413, 2020. tab, graf
Article in English | LILACS | ID: biblio-1101274

ABSTRACT

BACKGROUND The leishmaniases are complex neglected diseases caused by protozoan parasites of the genus Leishmania. Leishmania braziliensis is the main etiological agent of cutaneous leishmaniasis in the New World. In recent studies, genomic changes such as chromosome and gene copy number variations (CNVs), as well as transcriptomic changes have been highlighted as mechanisms used by Leishmania species to adapt to stress situations. OBJECTIVES The aim of this study was to determine the effect of short-term minor temperature shifts in the genomic and transcriptomic responses of L. braziliensis promastigotes in vitro. METHODS Growth curves, genome and transcriptome sequencing of L. braziliensis promastigotes were conducted from cultures exposed to three different temperatures (24ºC, 28ºC and 30ºC) compared with the control temperature (26ºC). FINDINGS Our results showed a decrease in L. braziliensis proliferation at 30ºC, with around 3% of the genes showing CNVs at each temperature, and transcriptomic changes in genes encoding amastin surface-like proteins, heat shock proteins and transport proteins, which may indicate a direct response to temperature stress. MAIN CONCLUSIONS This study provides evidence that L. braziliensis promastigotes exhibit a decrease in cell density, and noticeable changes in the transcriptomic profiles. However, there were not perceptible changes at chromosome CNVs and only ~3% of the genes changed their copies in each treatment.


Subject(s)
Animals , Temperature , Leishmania braziliensis/genetics , Adaptation, Physiological/genetics , DNA Copy Number Variations/genetics , Transcriptome/genetics , Adaptation, Physiological/physiology , Gene Expression Profiling , Genetic Profile
4.
Rev. bras. neurol ; 54(4): 26-29, out.-dez. 2018. tab, graf, ilus
Article in Portuguese | LILACS | ID: biblio-967834

ABSTRACT

INTRODUÇÃO: Variantes de número de cópias (CNVs) são variações no número de cópias de uma região da sequência genômica, descrevendo deleções ou ganhos em relação a indivíduos controle. Podem ser comuns e de caráter benigno, de significado incerto ou variantes patogênicas. Para interpretação, classificação e avaliação de significado clínico, é realizado comparação dos resultados nas bases de dados do laboratório e análise da literatura científica. OBJETIVO: Relatar caso de adolescente com duplicação/triplicação no cromossomo 4 com déficit cognitivo e dismorfismo facial e discutir se essa CNV pode ser responsável pelos achados clínicos. RELATO DE CASO: Paciente de 15 anos, sexo feminino, levada ao ambulatório de Genética para investigação de possível síndrome genética. Pais consanguíneos (primos). Desde a infância apresenta estrabismo divergente, atraso no desenvolvimento neuropsicomotor com dificuldade de fala. Cursou com síndrome hipotônica com espasmos mioclônicos. Evoluiu com déficit cognitivo. A Ressonância magnética de encéfalo demonstrou comprometimento de hemisférios cerebelares e atrofia de ponte e mesencéfalo. Cariótipo normal (46, XX) e hibridização genômica comparativa baseada em microarranjos (a-CGH) revelou duplicação/ triplicação na região 4p 15.32p15.31, variante de significado incerto. CONCLUSÃO: Destaca-se a importância da investigação através de análises cromossômicas por microarranjos em pacientes com deficiência intelectual, síndrome do espectro do autismo e múltiplas malformações congênitas - isto para aprimoramento diagnóstico, cuidados médicos específicos e aconselhamento genético.


INTRODUCTION: Copy number variants (CNVs) are variations in the number of copies of a region of the genomic sequence, describing deletions or gains in relation to control individuals. They may be common and of benign nature, of uncertain meaning or pathogenic variants. For interpretation, classification and evaluation of clinical significance, a comparison of the results in the laboratory databases and analysis of the scientific literature is performed. OBJECTIVE: To report a case of adolescent with duplication / triplication on chromosome 4 with cognitive deficit and facial dysmorphism and to discuss whether this CNV can be responsible for the clinical findings. CASE REPORT: A 15-year-old female patient was taken to the Genetics outpatient clinic to investigate a possible genetic syndrome. Consanguineous parents. Since childhood, she has divergent strabismus, delayed neuropsychomotor development with speech difficulties. She developed with hypotonic syndrome with myoclonic spasms. She evolved with cognitive deficit. Magnetic resonance imaging of brain showed compromised cerebellar hemispheres and atrophy of the bridge and midbrain. Normal karyotype (46, XX) and comparative genomic hybridization based on microarrays (a-CGH) revealed duplication / triplication in the region 4p 15.32p15.31, variant of uncertain meaning. CONCLUSION: The importance of research through chromosomal analysis by microarray in patients with intellectual disability, autism spectrum syndrome and multiple congenital malformations is highlighted ­ this for diagnosis improvement, specific medical care and genetic counseling.


Subject(s)
Humans , Female , Adolescent , Chromosomes, Human, Pair 4 , Developmental Disabilities/diagnosis , DNA Copy Number Variations/genetics , Neurodevelopmental Disorders/diagnosis , Brain/abnormalities , Magnetic Resonance Imaging/methods , Strabismus , Intellectual Disability
5.
Medicina (B.Aires) ; 78(1): 1-5, feb. 2018. ilus
Article in Spanish | LILACS | ID: biblio-894538

ABSTRACT

La región q11-q13 del cromosoma 15 humano es proclive a sufrir alteraciones genéticas. Algunos genes de la región presentan expresión parental diferencial monoalélica, regulada por imprinting (EI). Errores en la regulación del EI, disomías uniparentales (DSU), así como también el cambio en el número de copias genómicas (CNV) producidos por sitios susceptibles de quiebre cromosómico (BP), producen alteraciones en esta región. Las enfermedades más frecuentes asociadas son el síndrome de Prader-Willi, el síndrome de Angelman y el síndrome de microduplicación 15q11-q13. En el presente trabajo analizamos la región 15q11-q13 por Methyl specific-multiplex ligation-dependent probe amplification (MS-MLPA) en 181 muestras de ADN derivadas a nuestro servicio de análisis genético molecular. En este trabajo mostramos que, de las 181 muestras, 39 presentaron alteraciones detectables por MS-MLPA. El 61.5% (24/39) de esas alteraciones detectadas fueron deleciones, el 5.1% (2/39) duplicaciones y el 33.3%(13/39) DSU/EI. Los CNV fueron 4 veces más frecuentes que las DSU/EI (OR = 4; IC 95%: 1.56-10.25) consistente con la literatura. Entre los CNV, dos casos atípicos permiten postular posibles sitios BP que no han sido informados en la literatura previamente.


Human chromosome 15q11-q13 region is prone to suffer genetic alterations. Some genes of this region have a differential monoallelic imprinting-regulated expression pattern. Defects in imprinting regulation (IE), uniparental disomy (UPD) or copy number variation (CNV) due to chromosomal breakpoints (BP) in 15q11-q13 region, are associated with several diseases. The most frequent are Prader-Willi syndrome, Angelman syndrome and 15q11-q13 microduplication syndrome. In this work, we analyzed DNA samples from 181 patients with phenotypes which were compatible with the above-mentioned diseases, using Methyl specific-multiplex ligation-dependent probe amplification (MS-MLPA). We show that, of the 181 samples, 39 presented alterations detectable by MS-MLPA. Of those alterations, 61.5% (24/39) were deletions, 5.1% (2/39) duplications and 33.3% (13/39) UPD/IE. The CNV cases were 4 times more frequent than UPD/IE (OR= 4; IC 95%: 1.56-10.25), consistent with the literature. Among the CNVs, two atypical cases allow to postulate new possible BP sites that have not been reported previously in the literature.


Subject(s)
Humans , Prader-Willi Syndrome/genetics , Chromosomes, Human, Pair 15/genetics , Angelman Syndrome/genetics , Uniparental Disomy/genetics , DNA Copy Number Variations/genetics , Gene Deletion , Gene Duplication
6.
J. pediatr. (Rio J.) ; 93(5): 497-507, Sept.-Oct. 2017. tab, graf
Article in English | LILACS | ID: biblio-894056

ABSTRACT

Abstract Objective: To identify pathogenic genomic imbalances in patients presenting congenital heart disease (CHD) with extra cardiac anomalies and exclusion of 22q11.2 deletion syndrome (22q11.2 DS). Methods: 78 patients negative for the 22q11.2 deletion, previously screened by fluorescence in situ hybridization (FISH) and/or multiplex ligation probe amplification (MLPA) were tested by chromosomal microarray analysis (CMA). Results: Clinically significant copy number variations (CNVs ≥300 kb) were identified in 10% (8/78) of cases. In addition, potentially relevant CNVs were detected in two cases (993 kb duplication in 15q21.1 and 706 kb duplication in 2p22.3). Genes inside the CNV regions found in this study, such as IRX4, BMPR1A, SORBS2, ID2, ROCK2, E2F6, GATA4, SOX7, SEMAD6D, FBN1, and LTPB1 are known to participate in cardiac development and could be candidate genes for CHD. Conclusion: These data showed that patients presenting CHD with extra cardiac anomalies and exclusion of 22q11.2 DS should be investigated by CMA. The present study emphasizes the possible role of CNVs in CHD.


Resumo Objetivo: Identificar desequilíbrios genômicos patogênicos em pacientes que apresentam cardiopatias congênitas (CC) e anomalias extracardíacas e exclusão da síndrome de deleção 22q11.2 (SD22q11.2). Métodos: Foram avaliados por microarray cromossômico (CMA) 78 pacientes negativos para a deleção 22q11.2, previamente testados por hibridação in situ com fluorescência (FISH) e/ou amplificação de múltiplas sondas dependentes de ligação (MLPA). Resultados: Foram identificadas variações do número de cópias de DNA (CNVs) clinicamente significativas (≥ 300 kb) em 10% (8/78) dos casos, além de CNVs potencialmente relevantes em dois casos (duplicação de 993 kb em 15q21.1 e duplicação de 706 kb em 2p22.3). Genes envolvidos como IRX4, BMPR1A, SORBS2, ID2, ROCK2, E2F6, GATA4, SOX7, SEMAD6D, FBN1 e LTPB1 são conhecidos por atuar no desenvolvimento cardíaco e podem ser genes candidatos a CC. Conclusão: Esses dados mostram que pacientes que apresentam CC, com anomalias extracardíacas e exclusão da SD22q11.2, devem ser investigados por CMA. Ainda, este estudo enfatiza a possível função das CNVs nas CC.


Subject(s)
Humans , Male , Female , Infant , Child , Adult , Chromosomes, Human, Pair 22/genetics , Chromosome Deletion , DNA Copy Number Variations/genetics , Heart Defects, Congenital/genetics , Oligonucleotide Array Sequence Analysis , Genomics
7.
Rev. latinoam. enferm ; 23(1): 51-58, Jan-Feb/2015. tab, graf
Article in English | LILACS, BDENF | ID: lil-742031

ABSTRACT

AIM: to evaluate the clinical applicability of outcomes, according to the Nursing Outcomes Classification (NOC) in the evolution of orthopedic patients with Impaired Physical Mobility METHOD: longitudinal study conducted in 2012 in a university hospital, with 21 patients undergoing Total Hip Arthroplasty, evaluated daily by pairs of trained data collectors. Data were collected using an instrument containing five Nursing Outcomes, 16 clinical indicators and a five point Likert scale, and statistically analyzed. RESULTS: The outcomes Body Positioning: self-initiated, Mobility, Knowledge: prescribed activity, and Fall Prevention Behavior presented significant increases in mean scores when comparing the first and final evaluations (p<0.001) and (p=0.035). CONCLUSION: the use of the NOC outcomes makes it possible to demonstrate the clinical progression of orthopedic patients with Impaired Physical Mobility, as well as its applicability in this context. .


OBJETIVO: avaliar a aplicabilidade clínica de resultados, segundo a Classificação de Resultados de Enfermagem (NOC), na evolução de pacientes ortopédicos com Mobilidade Física Prejudicada. MÉTODO: estudo longitudinal realizado em um hospital universitário, com 21 pacientes submetidos à Artroplastia Total de Quadril, em 2012, avaliados diariamente por pares de coletadoras capacitadas. Os dados foram coletados por meio de instrumento contendo cinco Resultados de Enfermagem, 16 indicadores clínicos e uma escala Likert de cinco pontos, que foram analisados estatisticamente. RESULTADOS: os resultados Posicionamento do Corpo: autoiniciado, Mobilidade, Conhecimento: atividade prescrita e comportamento de prevenção de quedas apresentaram aumento significativo nos escores quando comparadas às médias da primeira com a última avaliação (p<0,001) e (p=0,035). CONCLUSÃO: o uso dos resultados da NOC possibilitou demonstrar a evolução clínica dos pacientes ortopédicos com Mobilidade Física Prejudicada e sua aplicabilidade neste cenário. .


OBJETIVO: evaluar la aplicabilidad clínica de resultados, según la Clasificación de Resultados de Enfermería (NOC) en la evolución de pacientes ortopédicos con Movilidad Física Perjudicada. MÉTODO: estudio longitudinal realizado en un hospital universitario, con 21 pacientes sometidos a Artroplastia Total de la Cadera en 2012, evaluados diariamente por pares de auxiliares capacitadas. Los datos fueron recolectados por medio de instrumento conteniendo cinco Resultados de Enfermería, 16 indicadores clínicos y una escala Likert de cinco puntos, que fueron analizados estadísticamente. RESULTADOS: los resultados Posicionamiento del Cuerpo (autoiniciado, movilidad), Conocimiento (actividad prescrita) y Comportamiento (prevención de caídas), presentaron aumento significativo en los puntajes cuando comparados los promedios de la primera evaluación con la última, (p<0,001) y (p=0,035) respectivamente. CONCLUSIÓN: el uso de los resultados de la NOC posibilitó demostrar la evolución clínica de los pacientes ortopédicos con Movilidad Física Perjudicada y su aplicabilidad en este escenario. .


Subject(s)
Humans , Male , Female , Adult , Middle Aged , DNA Copy Number Variations/genetics , Genetic Predisposition to Disease/genetics , Polymerase Chain Reaction , Receptors, Vasoactive Intestinal Peptide, Type II/genetics , Schizophrenia/genetics , Asians/ethnology , Asians/genetics , Genotype , Schizophrenia/ethnology
8.
Arq. bras. cardiol ; 104(1): 24-31, 01/2015. tab
Article in English | LILACS | ID: lil-741131

ABSTRACT

Background: Congenital heart defects (CHD) are the most prevalent group of structural abnormalities at birth and one of the main causes of infant morbidity and mortality. Studies have shown a contribution of the copy number variation in the genesis of cardiac malformations. Objectives: Investigate gene copy number variation (CNV) in children with conotruncal heart defect. Methods: Multiplex ligation-dependent probe amplification (MLPA) was performed in 39 patients with conotruncal heart defect. Clinical and laboratory assessments were conducted in all patients. The parents of the probands who presented abnormal findings were also investigated. Results: Gene copy number variation was detected in 7/39 patients: 22q11.2 deletion, 22q11.2 duplication, 15q11.2 duplication, 20p12.2 duplication, 19p deletion, 15q and 8p23.2 duplication with 10p12.31 duplication. The clinical characteristics were consistent with those reported in the literature associated with the encountered microdeletion/microduplication. None of these changes was inherited from the parents. Conclusions: Our results demonstrate that the technique of MLPA is useful in the investigation of microdeletions and microduplications in conotruncal congenital heart defects. Early diagnosis of the copy number variation in patients with congenital heart defect assists in the prevention of morbidity and decreased mortality in these patients. .


Fundamento: Os defeitos cardíacos congênitos são o grupo de anormalidades estruturais mais prevalentes ao nascimento e uma das principais causas de morbidade e mortalidade infantil. Estudos têm mostrado a contribuição da variação no número de cópias na gênese das malformações cardíacas. Objetivos: Investigar a variação no número de cópias gênicas em crianças com defeito cardíaco conotruncal. Métodos: Multiplex Ligation-dependent Probe Amplification (MLPA) foi realizado em 39 pacientes com defeito cardíaco conotruncal. Avaliação clínica e laboratorial foi realizada em todos os pacientes. Os pais dos probandos que apresentaram alterações também foram investigados. Resultados: Variação no número de cópias foi detectada em 7/39 pacientes: deleção 22q11.2, duplicação 22q11.2, duplicação 15q11.2, duplicação 20p12.2, deleção 19p, duplicação 15q e 8p23.2 com duplicação 10p12.31. As características clínicas foram compatíveis com o relatado na literatura associadas com microdeleção/microduplicação encontrada. Nenhuma dessas alterações foi herdada dos pais. Conclusões: Nossos resultados demonstram que a técnica de MLPA é útil na investigação de microdeleções e microduplicações em defeitos cardíacos congênitos conotruncais. O diagnóstico precoce das variações no número de cópias em pacientes com defeito cardíaco congênito auxilia na prevenção de morbidade e diminuição da mortalidade nesses pacientes. .


Subject(s)
Child , Child, Preschool , Female , Humans , Infant , Infant, Newborn , Male , Chromosome Deletion , Chromosome Duplication/genetics , DNA Copy Number Variations/genetics , Heart Defects, Congenital/genetics , /genetics , Early Diagnosis , Genetic Association Studies , Heart Defects, Congenital/pathology , Heart Defects, Congenital/physiopathology , Heart Septal Defects, Ventricular/genetics , Multiplex Polymerase Chain Reaction , Prospective Studies
9.
Indian J Hum Genet ; 2014 Apr-Jun ; 20 (2): 166-174
Article in English | IMSEAR | ID: sea-156655

ABSTRACT

BACKGROUND: Many studies have been conducted to identify either insertions-deletions (inDels) or copy number variations (CNVs) in humans, but few studies have been conducted to identify both of these forms coexisting in the same region. AIMS AND OBJECTIVES: To map the functionally significant sites within human genes that are likely to influence human traits and diseases. MATERIALS AND METHODS: In this report, we describe an inDel map in the 1051 Tibetan CNV regions obtained through CNV genotyping using Affymetrix Genome-wide single nucleotide polymorphism 6.0 chip. InDel polymorphisms in these copy number polymorphism regions were identified with a computational approach using the 2500 deoxyribonucleic acid sequences obtained from the 1000 Genome Project. RESULTS: The study identified a total of 95935 inDels that range from 1 bp to several bps in length which were found scattered across regulatory regions, exons and in introns of genes underlying the CNVs. A study on the distribution of inDels revealed that the majority of inDels were found in coding regions of the genome than the noncoding, while within the genes, inDels in intron regions were more followed by exonic regions and finally the regulatory regions. CONCLUSION: Study of inDels in CNV regions contribute to the enhanced understanding of the role played by the two variations and their collective influence on the genome. Further, a collection of these inDel genetic markers will aid in genetic mapping, further understanding of the phenotypic variability, identification of disease genes and in detecting novel CNVs.


Subject(s)
DNA Copy Number Variations/genetics , Genotype/genetics , Humans , INDEL Mutation/genetics , Polymorphism, Genetic/genetics , Population/genetics , Sequence Deletion/genetics , Tibet
10.
Indian J Hum Genet ; 2013 Jan; 19(1): 96-100
Article in English | IMSEAR | ID: sea-147645

ABSTRACT

Chromosomal deletions are among the most common genetic events observed in hematologic malignancies; loss of genetic material is regarded as a hallmark of putative tumor suppressor gene localization. We have identified an unusual cluster of deletions at 13q14.2-13q21.33 in an 80-year-old father of a monozygotic twin pair discordant for schizophrenia, who developed chronic leukemia (CLL) at age 69. MATERIALS AND METHODS: The breakpoints for individual deletions in this cluster was identified by Affymetrix Human Array 6.0 screening. RESULTS: The deleted segments harbours a number of genes, most associated with cancer as well as a high concentration of LINEs, SINEs and related repeats. The derived chromosome represents an intra-chromosomal re-arrangement that quickly overtook blood progenitor cells probably before age 69 as a cause of CLL. CONCLUSIONS: The study highlights the role of ongoing de novo changes at susceptible sites, such as repeat rich regions, in the human genome. Also, it argues for the involvement of genes/deletions in the 13q(14.2-21.33) region in the development of CCL.


Subject(s)
Aged , Aged, 80 and over , DNA Copy Number Variations/genetics , Humans , Leukemia/diagnosis , Leukemia/genetics , Long Interspersed Nucleotide Elements/genetics , Male , Mutation , Sequence Deletion , Short Interspersed Nucleotide Elements/genetics
12.
Femina ; 40(2)mar.-abr. 2012. ilus, tab
Article in Portuguese | LILACS | ID: lil-652211

ABSTRACT

Este texto tem como objetivo apresentar uma revisão acerca do estado da arte da citogenética convencional e molecular aplicada ao diagnóstico pré-natal, discutindo as aplicações, vantagens e desvantagens dos diferentes métodos, em suas bases teóricas e históricas. Desde 1960, a citogenética convencional, com a análise microscópica dos cromossomos em divisão, vem sendo utilizada como padrão ouro. Entretanto, mesmo adotando essa abordagem, para uma significativa parcela de casos não é possível estabelecer diagnóstico sindrômico definitivo em cerca de metade dos pacientes que apresentam cariótipo normal, na presença de malformações. Para esse grupo, as técnicas moleculares que envolvem estudos em nível genômico poderiam permitir a identificação de novos microarranjos cromossômicos possivelmente responsáveis pelo fenótipo anormal, contribuindo para a caracterização molecular e estabelecimento de um diagnóstico mais preciso, uma abordagem perinatal mais adequada e um aconselhamento genético mais detalhado. Destaca-se o advento das técnicas de FISH, SKY, CGH e array CGH como promissoras aliadas, de forma complementar ao cariótipo convencional


This paper aims at presenting a review of the state of the art of conventional and molecular cytogenetics applied to prenatal diagnosis, the applications, pros and cons of different techniques and their historical and theoretical background. Since 1960, conventional cytogenetics, based on the analysis of chromosomes has been used as a gold standard. However, for a significant proportion of cases it is not possible to establish definitive syndromic diagnosis in about half of the patients with normal karyotype in the presence of malformations. For this group, molecular techniques at the genomic level might allow the identification of new chromosomal areas potentially responsible for the abnormal phenotype, contributing to the molecular characterization and establishment of a more accurate diagnosis and the most appropriate perinatal approach, including a more detailed genetic counseling. The advent of FISH techniques, SKY, CGH and array CGH will be discussed as promising tools to complement cytogenetic diagnosis based on conventional karyotyping


Subject(s)
Humans , Male , Female , Cytogenetic Analysis/methods , Spectral Karyotyping/methods , In Situ Hybridization, Fluorescence/methods , Prenatal Diagnosis , Chromosome Banding/methods , Chromosome Aberrations , Chromosomes/ultrastructure , Comparative Genomic Hybridization/methods , Ultrasonography, Prenatal , DNA Copy Number Variations/genetics
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