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Dive into the research topics where Miriam Coelho Molck is active.

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Featured researches published by Miriam Coelho Molck.


European Journal of Medical Genetics | 2013

Atypical copy number abnormalities in 22q11.2 region: report of three cases.

Miriam Coelho Molck; Társis Paiva Vieira; Ilária Cristina Sgardioli; Milena Simioni; Ana Paula Santos; Josiane Souza; Fabíola Paoli Monteiro; Vera Lúcia Gil-da-Silva-Lopes

The 22q11.2 Deletion Syndrome (22q11.2DS) is the most common microdeletion syndrome in humans, with a highly variable phenotype. This chromosomal region contains low copy repeat (LCR) sequences that mediate non-allelic homologous recombination which predispose to copy number abnormalities at this locus. This article describes three patients investigated for suspicion of 22q11.2DS presenting atypical copy number abnormalities overlapping or not with the common ∼3 Mb deletion. They were investigated by G-banding karyotype, Multiplex-ligation dependent probe amplification (MLPA) and array Genomic Hibridization (aGH). Clinical and molecular data were compared with literature, in order to contribute to genotype-phenotype correlation. Atypical chromosomal abnormalities were detected: 3.6 Mb deletion at 22q11.21-q11.23 between LCRs B-F in patient 1 and approximately 1.5 Mb deletion at 22q11.21-q11.22 between LCRs D-E in patients 2 and 3. The breakpoints detected in patient 1 have not been previously described. These findings exemplify the complexity and genetic heterogeneity observed in 22q11.2 region and corroborates the idea that genetic modifiers contribute to the phenotypic variability observed in proximal and distal 22q11.2 deletion syndromes.


Jornal De Pediatria | 2017

Genomic imbalances in syndromic congenital heart disease

Miriam Coelho Molck; Milena Simioni; Társis Paiva Vieira; Ilária Cristina Sgardioli; Fabíola Paoli Monteiro; Josiane Souza; Agnes Cristina Fett-Conte; Temis Maria Felix; Isabella Lopes Monlleó; Vera Lúcia Gil-da-Silva-Lopes

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 ≥300kb) were identified in 10% (8/78) of cases. In addition, potentially relevant CNVs were detected in two cases (993kb duplication in 15q21.1 and 706kb 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.


Journal of Developmental and Behavioral Pediatrics | 2015

8p23.1 Interstitial Deletion in a Patient with Congenital Cardiopathy, Neurobehavioral Disorders, and Minor Signs Suggesting 22q11.2 Deletion Syndrome.

Miriam Coelho Molck; Fabíola Paoli Monteiro; Milena Simioni; Vera Lúcia Gil-da-Silva-Lopes

Copy number variation studies of known disorders have the potential to improve the characterization of clinical phenotypes and may help identifying candidate genes and their pathways. The authors described a child with congenital heart disease, microcephaly, facial dysmorphisms, developmental delay, learning difficulties, and behavioral problems. There was initially a clinical suspicion of 22q11.2 deletion syndrome (22q11.2 DS), but molecular cytogenetic analysis (array genomic hybridization [aGH]) showed the presence of a de novo 3.6-Mb interstitial microdeletion in 8p23.1. The main features of 8p23.1 DS include congenital heart disease and behavioral problems, in addition to minor dysmorphisms and mental delay. Therefore, this article highlights the application of aGH to investigate 8p23.1 deletion in nonconfirmed 22q11.2 DS patients presenting neurobehavioral disorders, congenital cardiopathy, and minor dysmorphisms.


Annals of Human Genetics | 2017

Ancestry Informative Marker Panel to Estimate Population Stratification Using Genome-wide Human Array

Fernanda B. Barbosa; Natalia F. Cagnin; Milena Simioni; Allysson A. Farias; Fabio Torres; Miriam Coelho Molck; Tânia Kawasaki de Araujo; Vera Lúcia Gil-da-Silva-Lopes; Eduardo A. Donadi; Aguinaldo Luiz Simões

Case‐control studies are a powerful strategy to identify candidate genes in complex diseases. In admixed populations, association studies can be affected by population stratification, leading to spurious genetic associations. Ancestry informative markers (AIMs) can be used to minimise this effect. The aim of this work was to select a set of AIMs to estimate population stratification in a Brazilian case‐control study performed using a genome‐wide array. A total of 345 single nucleotide polymorphism (SNP) AIMs, selected from the Cytoscan HD array and based on previously reported panels, was used to discriminate between European, African, and Amerindian populations. These SNP‐AIMs were used to infer ancestry in systemic lupus erythematosus (SLE) patients (n  =  23) and in healthy subjects (n  =  110). Moderate population substructure was observed between SLE and control groups (Fst  =  0.0113). Although patients and controls have shown a major European genomic contribution, significant differences in the European (P  =  6.47 × 10−5) and African (P  =  1.14 × 10−3) ancestries were detected between the two groups. We performed a two‐step validation of the 345 SNP‐AIMs panel estimating the ancestral contributions using a panel of 12 AIMs and approximately 70K SNPs from the array. Evaluation of population substructure in case‐control studies, avoiding spurious genetic associations, can be performed using our panel of 345 SNP‐AIMs.


American Journal of Medical Genetics Part A | 2015

Distal 22q11.2 microduplication combined with typical 22q11.2 proximal deletion: a case report.

Miriam Coelho Molck; Társis Paiva Vieira; Milena Simioni; Ilária Cristina Sgardioli; Ana Paula Santos; Ana Carolina Xavier; Vera Lúcia Gil-da-Silva-Lopes

The 22q11 chromosomal region contains low copy repeats (LCRs) sequences that mediate non‐allelic homologous recombination, which predisposes to copy number variations (CNVs) at this locus. Hemizygous deletions of the proximal 22q11.2 region result in the 22q11.2 deletion syndrome (22q11.2 DS). In addition, 22q11.2 duplications involving the distal LCR22s have been reported. This article describes a patient presenting a 2.5‐Mb de novo deletion at proximal 22q11.21 region (between LCRs A‐D), combined with a 1.3‐Mb maternally inherited duplication at distal 22q11.23 region (between LCRs F‐H). The presence of concomitant chromosomal imbalances found in this patient has not been reported previously. Clinical and molecular data were compared with literature, in order to contribute to genotype‐phenotype correlation. These findings exemplify the complexity and genetic heterogeneity observed in 22q11.2 deletion syndrome and highlights the difficulty to make genetic counseling and predict phenotypic consequences in these situations.


American Journal of Medical Genetics Part A | 2016

Genotype-Phenotype Correlation of 16p13.3 Terminal Duplication and 22q13.33 Deletion: Natural History of a Patient and Review of the Literature

Marshall Ítalo Barros Fontes; Ana Paula Santos; Miriam Coelho Molck; Milena Simioni; Diogo Lucas Lima do Nascimento; Ana Karolina Maia de Andrade; Carla Rosenberg; Ana C.V. Krepischi; Simone Appenzeller; Isabella Lopes Monlleó; Vera Lúcia Gil-da-Silva-Lopes

This article reports a patient with a de novo ∼9.32 Mb duplication at 16p13.3 and a ∼71 Kb deletion at 22q13.33. The patient was followed from 1 month old to 3 years and 8 months of age and presented typical features of the 16p13.3 duplication syndrome. In addition, the patient presents a portal cavernoma, an alteration rarely reported in this condition. Renal agenesis was detected as additional developmental defect. After genomic array and FISH analysis, the karyotype was 46,XX,ins(22;16)(q13;p13.2p13.3). ish ins(22;16)(RP11‐35P16+, RP11‐27M24+). arr16p13.2p13.3(85,880‐9,413,353)×3 dn arr22q13.33 (51,140,789‐51,197,838)×1 dn. The authors provide a comprehensive review of the literature. This approach shed light on the genotype‐phenotype correlation.


XXV Congresso de Iniciação Cientifica da Unicamp | 2017

Description of clinical signs of Brazilian patients with the 22q11.2 Deletion Syndrome and comparison with different populations

Ana De Miranda Henriques Moura; Társis Paiva Vieira; Elaine Lustosa-Mendes; Vera Lúcia Gil da Silva Lopes; Ilária Cristina Sgardioli; Fabíola Paoli Monteiro; Roberta Mazzariol Volpe Aquino; Miriam Coelho Molck

22q11.2 Deletion Syndrome (22q11.2DS) is the most common microdeletion among humans. This syndrome presents several clinical manifestations and symptoms, which hampers its clinical diagnosis. In addition to a wide range of signs/symptoms, recent studies have indicated that the clinical presentation has been observed variable among different population groups. This study aimed to describe the main clinical signs of patients with 22q11.2 DS registered in the Brazilian Database on Craniofacial Anomalies/22q11.2 Deletion Syndrome (BDCA/SDEL22q) and compare the frequency of clinical signs of these with patient groups with the same condition from different populations.


Molecular Syndromology | 2017

ADULT Phenotype and rs16864880 in the TP63 Gene: Two New Cases and Review of the Literature

Tânia Kawasaki de Araujo; Elaine Lustosa-Mendes; Ana Paula Santos; Miriam Coelho Molck; Roberta Mazzariol Volpe-Aquino; Vera Lúcia Gil-da-Silva-Lopes

The TP63 gene has been described in 5 overlapping limb malformation disorders, including a rare autosomal dominant ectodermal disorder named acro-dermato-ungual-lacrimal-tooth (ADULT) syndrome. This article describes 2 patients with ectrodactyly and variable features related to ectodermal dysplasia/ADULT syndrome, and the polymorphism rs16864880 in the TP63 gene, which was not present in their parents. The role of this variant in the genesis of this condition is discussed, based upon a review of 40 cases. The results suggested that rs16864880 may not be directly related to ADULT syndrome. However, it is not possible to exclude its participation in gene interactions in the limb development pathway.


Molecular Syndromology | 2017

A New Case of the Rare 10q22.3q23.2 Microdeletion Flanked by Low-Copy Repeats 3/4

Miriam Coelho Molck; Milena Simioni; Társis Paiva Vieira; Fabíola Paoli Monteiro; Vera Lúcia Gil-da-Silva-Lopes

Deletions in the 10q22.3q23.2 region are rare and mediated by 2 low-copy repeats (LCRs 3 and 4). These deletions have already been recognized as the 10q22q23 deletion syndrome. The phenotype associated with this condition is rather uncharacteristic, and most common features are craniofacial dysmorphisms and developmental delay. We describe a boy with craniofacial dysmorphic features, developmental delay, tetralogy of Fallot, hand/foot abnormalities, and recurrent respiratory tract infections. Chromosomal microarray analysis disclosed a 7.8-Mb microdeletion at 10q22.3q23.2, flanked by LCRs 3/4, and an additional 16q12.1 microdeletion of 189 kb. This article reviews the clinical signs of reported cases with similar deletions and compares them with our patient, contributing to a better understanding of genotype-phenotype correlation.


Jornal De Pediatria | 2017

Artigo OriginalGenomic imbalances in syndromic congenital heart diseaseDesequilíbrios genômicos na cardiopatia congênita sindrômica

Miriam Coelho Molck; Milena Simioni; Társis Paiva Vieira; Ilária Cristina Sgardioli; Fabíola Paoli Monteiro; Josiane Souza; Agnes Cristina Fett-Conte; Temis Maria Felix; Isabella Lopes Monlleó; Vera Lúcia Gil-da-Silva-Lopes

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).

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Társis Paiva Vieira

State University of Campinas

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Milena Simioni

State University of Campinas

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Ana Paula Santos

State University of Campinas

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Josiane Souza

Pontifícia Universidade Católica do Paraná

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Agnes Cristina Fett-Conte

Faculdade de Medicina de São José do Rio Preto

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Temis Maria Felix

Universidade Federal do Rio Grande do Sul

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