Publications by authors named "Tarsis Paiva Vieira"

Article Synopsis
  • MOMO syndrome is a rare overgrowth disorder with uncertain causes and varied symptoms, including developmental delays and facial dysmorphism.
  • In a case study, a patient exhibited severe developmental issues and atypical symptoms like megaesophagus and severe acne, alongside the typical signs of MOMO syndrome.
  • Researchers suggest that the overlap of symptoms between MOMO syndrome, Primrose syndrome, and specific genetic deletions indicates that MOMO could be considered part of a broader microdeletion syndrome spectrum.
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Objective: The development of specific growth charts for Turner Syndrome (TS) promotes adequate assessment of growth and weight gain, and earlier diagnosis of comorbidities, and may help to analyze the effectiveness of treatments to promote growth and puberty. The aim of this study was to construct a growth chart with the largest possible series of patients with a cytogenetic diagnosis of TS from a Brazilian reference center.

Methods: This is a longitudinal study, with 259 cases of TS born between 1957 and 2014 and followed between 1975 and 2019, without the use of GH or oxandrolone.

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Pathogenic SOX11 variants have been associated with intellectual developmental disorder with microcephaly, and with or without ocular malformations or hypogonadotropic hypogonadism (HH) (IDDMOH, OMIM # 615866). In this article, we report seven new patients with de novo SOX11 variants. Five of the variants are missense, one nonsense, and one whole-gene deletion, most of them are novel variants.

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Introduction: The dual diagnosis of Down syndrome and Turner syndrome in the same patient was clinically identified in the early 1950s before the development of karyotyping techniques. After that, several authors reported anecdotal patients and/or reviewed series of Down-Turner double aneuploidies due to a regular 46,X,+21 constitution or different combinations of abnormal cell lines. In such cases, the most typical presentation encompasses the female sex, Down syndrome phenotype, and chromosomal mosaicism.

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Article Synopsis
  • Low-pass whole genome sequencing (LP-WGS) offers a cheaper method for detecting copy number variants (CNVs) compared to chromosomal microarray analysis (CMA), providing similar resolution for CNV detection.
  • In a study with 1,363 patients experiencing neurodevelopmental challenges, LP-WGS yielded a positive result in 22% of cases, with 16% being diagnostic for pathogenic CNVs, comparable to CMA's diagnostic rates.
  • The study highlights LP-WGS as a practical solution for countries like Brazil where CMA costs are high, making it easier to implement in clinical settings with the help of commercial software.
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Background: The chromosome 1p32p31 deletion syndrome is a contiguous gene disorder with a variable phenotype characterized by brain malformations with or without urinary tract defects, besides neurodevelopmental delay and dysmorphisms. An expanded phenotype was proposed based on additional findings, including one previous report of a patient presenting with moyamoya disease.

Case Presentation: The authors report a patient presenting with early neurodevelopmental delay, hydrocephalus, renal malformation, and dysmorphisms.

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Article Synopsis
  • Juvenile idiopathic arthritis (JIA) is a complex condition with unknown causes, and 22q11.2 deletion syndrome is a multisystem disease featuring a variety of symptoms, including arthritis.
  • The report discusses a patient with short stature, neurodevelopmental delay, and joint issues diagnosed with 22q11.2 deletion syndrome, who suffered an episode of polyarticular arthritis at a young age.
  • Whole Genome Sequencing found no direct genetic links to arthritis, but identified 41 risk factors suggesting that the patient's arthritis may be unrelated to his deletion syndrome and due to multiple contributing factors.
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The condition known as 22q11.2 deletion syndrome (MIM #188400) is a rare disease with a highly variable clinical presentation including more than 180 features; specific guidelines for screening individuals have been used to support clinical suspicion before confirmatory tests by Brazil's Craniofacial Project. Of the 2568 patients listed in the Brazilian Database on Craniofacial Anomalies, 43 individuals negative for the 22q11.

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This study describes genomic findings among individuals with both orofacial clefts (OC) and microphthalmia/anophthalmia/coloboma (MAC) recorded in the Brazilian Database on Craniofacial Anomalies (BDCA). Chromosomal microarray analysis (CMA) and Whole Exome Sequencing (WES) were performed in 17 individuals with OC-MAC. Clinical interpretation of molecular findings was based on data available at the BDCA and on re-examination.

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Insertions are rare balanced chromosomal rearrangements with an increased risk of imbalances for the offspring. Moreover, balanced rearrangements in individuals with abnormal phenotypes may be associated to the phenotype by different mechanisms. This study describes a three-generation family with a rare chromosomal insertion.

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-associated syndrome (SAS) is a rare condition, and it is characterized by severe developmental delay/intellectual disability, especially severe speech delay/or absence, craniofacial abnormalities, and behavioral problems. Most of the published reports are limited to children, with little information about the natural history of the disease and the possible novel signs and symptoms or behavioral changes in adulthood. We describe the management and follow-up of a 25-year-old male with SAS due to a de novo heterozygous nonsense variant :c.

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The widespread use of whole exome sequencing (WES) resulted in the discovery of multilocus pathogenic variations (MPV), defined as two or more distinct or overlapping Mendelian disorders occurring in a patient, leading to a blended phenotype. In this study, we report on a child with autosomal recessive primary microcephaly-5 (MCPH5) and nephropathic cystinosis. The proband is the first child of consanguineous parents, presenting a complex phenotype including neurodevelopmental delay, microcephaly, growth restriction, significant delay of bone maturation, lissencephaly, and abnormality of neuronal migration, photophobia, and renal tubular acidosis.

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Background: Knowledge of clinical and laboratory differences between chromosomal and undefined causes aids etiological research on non-obstructive azoospermia.

Objective: Compare clinical and laboratory differences between men with non-obstructive azoospermia due to chromosomal anomalies versus undefined causes.

Design And Setting: A cross-sectional retrospective study conducted at a public university hospital in Campinas (Brazil).

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Article Synopsis
  • The TBC1D2B gene has been identified as a cause of a specific neurodevelopmental disorder that includes symptoms like seizures and enlarged gums.
  • Two male siblings exhibited similar symptoms starting with gum overgrowth and soft tissue growth at age 3, later developing severe facial bone issues and neurological symptoms like mental decline and tremors.
  • Genetic testing revealed a new harmful variant of the TBC1D2B gene in both siblings, with parents carrying a single copy, further confirming the link between this gene and their rare condition.
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Runs of homozygosity (ROH) in the human genome may be clinically relevant. The aim of this study was to report the frequency of increased ROH of the autosomal genome in individuals with neurodevelopmental delay/intellectual disability and/or multiple congenital anomalies, and to compare these data with a control group. Data consisted of calls of homozygosity from 265 patients and 289 controls.

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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).

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Background: The clinical heterogeneity of the 22q11.2 Deletion Syndrome (22q11.2DS - OMIM, #188400 and #192430) is a universal challenge leading to diagnostic delay.

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Partial duplication of chromosome 3q - dup(3q) - is a recognizable syndrome with dysmorphic facial features, microcephaly, digital anomalies, and genitourinary and cardiac defects, as well as growth retardation and developmental delay. Most cases of dup(3q) result from unbalanced translocations or inversions and are accompanied by additional chromosomal imbalances. Pure dup(3q) is rare, and only 31 cases have been reported so far.

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Submicroscopic deletions in chromosome 19 have been rarely reported. We reported a male patient presenting with neurodevelopmental delay and facial dysmorphisms with a de novo 19p13.11p13.

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In the last few decades, different methods for the detection of genomic imbalances, such as the microdeletion syndromes, were developed. The 22q11.2 deletion syndrome (22q11.

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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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