A5015599292- Genomic variations and chromosomal abnormalities
- Congenital heart defects research
- Sexual Differentiation and Disorders
- Genetic and Clinical Aspects of Sex Determination and Chromosomal Abnormalities
- Chromosomal and Genetic Variations
- Genetics and Neurodevelopmental Disorders
- Congenital Heart Disease Studies
- Craniofacial Disorders and Treatments
- Prenatal Screening and Diagnostics
- Urological Disorders and Treatments
- Genomics and Rare Diseases
- Cleft Lip and Palate Research
- Congenital Ear and Nasal Anomalies
- Tissue Engineering and Regenerative Medicine
- Coronary Artery Anomalies
- Tracheal and airway disorders
- Williams Syndrome Research
- Sperm and Testicular Function
- Cancer Genomics and Diagnostics
- Hedgehog Signaling Pathway Studies
- Connective tissue disorders research
- Ocular Disorders and Treatments
- Acute Myeloid Leukemia Research
- Genetic factors in colorectal cancer
- Tumors and Oncological Cases
Universidade Estadual de Campinas (UNICAMP)
2016-2025
Genomic (Brazil)
2020-2025
GTx (United States)
2025
Hospital de Clínicas da Unicamp
2018-2024
Universidad Católica Cecilio Acosta
2018
Instituto Nacional do Câncer
2012-2013
National Council for Scientific and Technological Development
2012
Pontifícia Universidade Católica de Campinas
2012
Myhre syndrome is a rare disorder caused by pathogenic gain-of-function variants in the SMAD4 gene. Most of patients have had de novo variants. There are several instances autosomal dominant inheritance, and penetrance appears to be complete. We describe seven Brazilian patients, three whom siblings carrying recurrent c.1486C>T p.(Arg496Cys) variant inherited from father. The other unrelated simplex cases. All affected individuals clinical features commonly found syndrome, including typical...
Heterozygous variants in the Early B cell factor 3 ( EBF3 ) have been reported individuals presenting with hypotonia, ataxia and delayed development syndrome (HADDS) (MIM#617330). However, pathogenic show phenotypic heterogeneity very few C-terminal domain described. We report on a heterozygous de-novo variant gene an individual neurodevelopmental delay behavioural problems. The proband presented speech delay, learning disability problems that suggest oppositional defiant disorder. He also...
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). 78 negative for the deletion, previously screened by fluorescence situ hybridization (FISH) and/or multiplex ligation probe amplification (MLPA) were tested chromosomal microarray analysis (CMA). Clinically significant copy number variations (CNVs ≥300 kb) identified 10% (8/78) cases. In addition, potentially...
The aim of this study was to investigate the frequency gonadal tumors among patients with Turner syndrome (TS) carrying Y-derivative sequences in their chromosomal constitution.Six out 260 TS were selected based on mosaicism entire Y chromosome; 10 included because have been detected by PCR specific oligonucleotides (sex-determining region Y, testis specific-protein, and DYZ3) further confirmed FISH. 16 subjected bilateral gonadectomy at ages varying from 8.7 18.2 years. Both...
Objectives The aim of this study was to describe clinical features in subjects with palatal abnormalities and assess the distribution these among those without 22q11.2 deletion. Design Descriptive cohort. Patients One hundred patients suspicion DS were included. Methods All evaluated by a geneticist, who completed standardized protocol. deletion screening performed fluorescence situ hybridization using TUPLE1 probe multiplex ligation-dependent amplification P250-A1 kit. Results detected 35...
ABSTRACT Balanced chromosomal rearrangements (BCRs), including inversions, translocations, and insertions, reorganize large sections of the genome contribute substantial risk for developmental disorders (DDs). However, rarity lack systematic screening BCRs in population has precluded unbiased analyses genomic features mechanisms associated with DDs versus normal outcomes. Here, we sequenced analyzed 1,420 BCR breakpoints across 710 individuals, 406 DD cases first large-scale collection 304...
Abstract We report on a boy presenting submucous cleft palate, hydronephrosis, ventriculoseptal defect, aniridia, and developmental delay. Additional material 11p13 was cytogenetically visible array analyses identified duplicated segment 15q25‐26 chromosome region; further, revealed small deletion (49 kb) at region involving the ELP4 gene duplication 8p23.1. Results were confirmed with both molecular cytogenetics techniques. Possibilities for etiological basis of clinical phenotype are...
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 number abnormalities at this locus. article describes three patients investigated for suspicion of 22q11.2DS presenting atypical overlapping or not ∼3 Mb deletion. They were by G-banding karyotype, Multiplex-ligation dependent probe...
The clinical heterogeneity of the 22q11.2 Deletion Syndrome (22q11.2DS - OMIM, #188400 and #192430) is a universal challenge leading to diagnostic delay. aim this study was evaluate low cost strategy for diagnosis condition based upon criteria previously reported. Health professionals, who collected data, from twelve centers were trained in those criteria, which summed through an online application (CranFlow).
Abstract We report on a 17‐year‐old patient with midline defects, ocular hypertelorism, neuropsychomotor development delay, neonatal macrosomy, and dental anomalies. DNA copy number investigations using Whole Genome TilePath array consisting, of 30K BAC/PAC clones showed 6.36 Mb deletion in the 9p24.1–p24.3 region 14.83 duplication 20p12.1–p13 region, which derived from maternal balanced t(9;20)(p24.1;p12.1) as shown by FISH studies. Monosomy 9p is well‐delineated chromosomal syndrome...
Velocardiofacial syndrome is one of the recognized forms chromosome 22q11.2 deletion (22q11.2 DS) and has an incidence 1 4,000 to 6,000 births. Nevertheless, 22q11 not found in several patients with a DS phenotype. In this situation, other chromosomal aberrations and/or mutations T-box transcription factor C (TBX1) gene have been detected some patients. A similar phenotype that reported animal models fibroblast growth 8 (Fgf8) gene. To date, FGF8 investigated humans. We tested strategy...
Low-pass whole genome sequencing (LP-WGS) has been applied as alternative method to detect copy number variants (CNVs) in the clinical setting. Compared with chromosomal microarray analysis (CMA), sequencing-based approach provides a similar resolution of CNV detection at lower cost. In this study, we assessed efficiency and reliability LP-WGS more affordable CMA. A total 1363 patients unexplained neurodevelopmental delay/intellectual disability, autism spectrum disorders, and/or multiple...
Objective : To describe demographic and clinical-genetic characteristics of patients from a poor area Brazil to share experience on how the local genetic unit has addressed their major health needs. Design Descriptive cohort. Setting A unit, cytogenetics regional cleft team located in northeast southeast Brazil. Participants total 133 individuals with orofacial clefts who attended surgical call nongovernmental organization. From this group, 125, 77, 13 completed phases 1, 2, 3, respectively....
Although considered a well-known condition, there is only one study describing the body composition among individuals with Williams-Beuren syndrome. The aim was to characterize nutritional status in Brazilian this condition. Cross-sectional designed evaluate clinical and data of 17 patients. Z-scores for height, weight, mass index, triceps subscapular skinfold thickness, arm circumference, muscle area, fat area were calculated. Wilcoxon's test used investigate differences between z-scores...
In the last few decades, different methods for detection of genomic imbalances, such as microdeletion syndromes, were developed. The 22q11.2 deletion syndrome (22q11.2DS) is most common and presents wide clinical heterogeneity. aim this study was to describe 4 unusual cases imbalances found in individuals with suspected syndromes. Different necessary complete diagnosis obtain information genetic counseling. retrospective descriptive. From August 2014 December 2015, 39 assessed using FISH...
Abstract This article reports the present situation of Brazilian health care in genetics for Orofacial Cleft (OFC) and 22q11.2 Deletions Syndrome (22q11.2 DS) based on research conducted by Brazil's Craniofacial Project (BCFP). Established 2003, BCFP is a voluntary cooperative network aiming to investigate people with these diseases other craniofacial anomalies. The initiatives results are presented four sections: (a) comprehensive report public system genetics; (b) multicentric studies...
Submicroscopic deletions in chromosome 19 have been rarely reported. We reported a male patient presenting with neurodevelopmental delay and facial dysmorphisms de novo 19p13.11p13.12 deletion of approximately 1.4 Mb. To date, there are seven cases overlapping the 19p13.11-p13.12 region described literature. A 800 kb for branchial arch defects proximal 19p13.12, another minimal critical 305 hypertrichosis, synophrys, protruding front teeth proposed previously. suggest that shortest overlap...