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1.
Int J Mol Sci ; 25(14)2024 Jul 19.
Artículo en Inglés | MEDLINE | ID: mdl-39063141

RESUMEN

KIAA0586 variants have been associated with a wide range of ciliopathies, mainly Joubert syndrome (JS, OMIM #616490) and short-rib thoracic dysplasia syndrome (SRTD, OMIM #616546). However, the hypothesis that this gene is involved with hydrolethalus syndrome (HSL, OMIM #614120) and orofaciodigital syndrome IV (OMIM #258860) has already been raised. Ciliopathies' clinical features are often overlapped despite differing in phenotype severity. Besides KIAA0586, HYLS1 and KIF7 are also known for being causative of ciliopathies, indicating that all three genes may have similar or converging genomic pathways. Overall, the genotypic and phenotypic spectrum of ciliopathies becomes wider and conflicting while more and more new variants are added to this group of disorders' molecular pot. In this case report we discuss the first Brazilian individual clinically diagnosed with hydrolethalus syndrome and molecular findings that demonstrate the role of KIAA0586 as a causative gene of a group of genetic disorders. Also, recent reports on individuals with intronic and exonic variants combined leading to ciliopathies support our patient's molecular diagnosis. At the same time, we discuss variable expressivity and overlapping features in ciliopathies.


Asunto(s)
Anomalías Múltiples , Cerebelo , Anomalías del Ojo , Enfermedades Renales Quísticas , Fenotipo , Retina , Humanos , Anomalías del Ojo/genética , Anomalías del Ojo/patología , Enfermedades Renales Quísticas/genética , Anomalías Múltiples/genética , Retina/anomalías , Retina/patología , Retina/metabolismo , Cerebelo/anomalías , Cerebelo/patología , Ciliopatías/genética , Masculino , Mutación , Femenino , Proteínas de Ciclo Celular
2.
Am J Med Genet A ; 182(11): 2624-2631, 2020 11.
Artículo en Inglés | MEDLINE | ID: mdl-32893956

RESUMEN

Oculo-auriculo-vertebral spectrum (hemifacial microsomia/OAVS, OMIM #164210) is a heterogenous and congenital condition caused by a morphogenesis defect of the first and second pharyngeal arches. Etiology includes unknown genetic, environmental factors and chromosomal alterations, which 22q11.2 region is the most frequently reported. Several candidate genes for OAVS have been proposed; however, none has been confirmed as causative of the phenotype. This review aims to sum up all clinical and molecular findings in 22q region of individuals diagnosed with OAVS and to investigate genes that may be involved in the development of the spectrum. A search was performed in PubMed using all entry terms to OAVS and Chromosome 22q11. After screening, 11 papers were eligible for review. Deletions and duplications in the q11.2 region were the most frequent (18/22) alterations reported and a total of 68 genes were described. Our systematic review reinforces the hypothesis that 22q11 region is a candidate locus for OAVS as well as CLTCL1, GSC2, HIRA, MAPK1, TBX1, and YPEL1 as potential candidates genes for genotype-phenotype correlation. Complementary studies regarding genes interaction involved in the 22q11 region are still necessary in the search for a genotype-phenotype association, since the diagnosis of OAVS is a constant medical challenge.


Asunto(s)
Cromosomas Humanos Par 22 , Estudios de Asociación Genética , Predisposición Genética a la Enfermedad , Síndrome de Goldenhar/diagnóstico , Síndrome de Goldenhar/genética , Adolescente , Niño , Preescolar , Aberraciones Cromosómicas , Femenino , Eliminación de Gen , Duplicación de Gen , Humanos , Lactante , Masculino , Fenotipo , Polimorfismo de Nucleótido Simple
3.
Am J Med Genet A ; 173(2): 309-314, 2017 Feb.
Artículo en Inglés | MEDLINE | ID: mdl-27774762

RESUMEN

Oculoauriculovertebral spectrum (OAVS), also known as Goldenhar syndrome, is considered a condition associated to failing of embryogenesis involving the first and second branchial arches, leading to structural abnormalities arising from it. The aim of this study is to verify the hearing features presented by patients with OAVS and provide additional information that may contribute to improvement of speech therapy. The sample consisted of 10 individuals diagnosed with OAVS and cared for by the Clinical Genetics Service. All patients underwent objective assessment of auditory function through tonal and vocal audiometry. This evaluation was completed using TOAE and BERA. The patient's age ranged from 1 year and 9 months to 27 years and 4 months. At physical examination it was found that 10 had microtia, 7 preauricular tags, 6 low-set ears, 6 ear canal atresia, and 2 preauricular pits. Among the patients, five presented with abnormal hearing. Three patients had conductive hearing loss ranging from mild to moderate, and two patients had sensorineural hearing loss from mild to profound. Three patients had hearing loss in both ears. Speech-language disorders are common in children with OAVS. Thus, the referral to the audiologist and speech pathologist is indicated as soon as possible. Early recognition and detailed understanding of aspects related to the etiology, clinical features, and outcome of patients with OAVS are essential for their proper management. © 2016 Wiley Periodicals, Inc.


Asunto(s)
Síndrome de Goldenhar/diagnóstico , Fenotipo , Adolescente , Adulto , Niño , Preescolar , Femenino , Síndrome de Goldenhar/genética , Pérdida Auditiva/diagnóstico , Pérdida Auditiva/genética , Pruebas Auditivas , Humanos , Lactante , Masculino , Examen Físico , Estudios Prospectivos , Adulto Joven
4.
Pediatr Int ; 57(2): e69-72, 2015 Apr.
Artículo en Inglés | MEDLINE | ID: mdl-25808856

RESUMEN

Nager syndrome is considered a rare genetic syndrome characterized by craniofacial and radial anomalies. Pierre Robin sequence is a triad that includes micrognathia, cleft palate and glossoptosis. The present patient had typical findings of Nager syndrome and Pierre Robin sequence. He progressed to severe respiratory distress, requiring mechanical ventilation and tracheostomy. At 1 year and 11 months, he had episodes of cardiorespiratory arrest and died. In the literature review, we identified the clinical description of 44 patients with Nager syndrome. Among them, 93.1% had micrognathia, 38.6% cleft palate and 11.3% glossoptosis. Only one (2.3%) had all three features, as observed in the present patient. Therefore, despite the fact that the features of Pierre Robin sequence are common, there are few patients who have the complete triad. It is noteworthy, however, that they may be associated with respiratory distress, which may put the patient's life at risk.


Asunto(s)
Disostosis Mandibulofacial/diagnóstico , Síndrome de Pierre Robin/diagnóstico , Resultado Fatal , Humanos , Lactante , Recién Nacido , Masculino , Disostosis Mandibulofacial/complicaciones , Disostosis Mandibulofacial/terapia , Síndrome de Pierre Robin/complicaciones , Síndrome de Pierre Robin/terapia , Respiración Artificial , Traqueostomía
5.
Am J Med Genet A ; 164A(9): 2256-62, 2014 Sep.
Artículo en Inglés | MEDLINE | ID: mdl-24989330

RESUMEN

Approximately 6% of school-aged children have math difficulties (MD). A neurogenetic etiology has been suggested due to the presence of MD in some genetic syndromes such as 22q11.2DS. However, the contribution of 22q11.2DS to the MD phenotype has not yet been investigated. This is the first population-based study measuring the frequency of 22q11.2DS among school children with MD. Children (1,564) were identified in the schools through a screening test for language and math. Of these children, 152 (82 with MD and 70 controls) were selected for intelligence, general neuropsychological, and math cognitive assessments and for 22q11.2 microdeletion screening using MLPA. One child in the MD group had a 22q11.2 deletion spanning the LCR22-4 to LCR22-5 interval. This child was an 11-year-old girl with subtle anomalies, normal intelligence, MD attributable to number sense deficit, and difficulties in social interactions. Only 19 patients have been reported with this deletion. Upon reviewing these reports, we were able to characterize a new syndrome, 22q11.2 DS (LCR22-4 to LCR22-5), characterized by prematurity; pre- and postnatal growth restriction; apparent hypotelorism, short/upslanting palpebral fissures; hypoplastic nasal alae; pointed chin and nose; posteriorly rotated ears; congenital heart defects; skeletal abnormalities; developmental delay, particularly compromising the speech; learning disability (including MD, in one child); intellectual disability; and behavioral problems. These results suggest that 22q11.2 DS (LCR22-4 to LCR22-5) may be one of the genetic causes of MD.


Asunto(s)
Síndrome de DiGeorge/genética , Discapacidades para el Aprendizaje/genética , Matemática , Niño , Femenino , Dosificación de Gen , Humanos , Masculino
7.
Pediatr Int ; 56(4): 534-40, 2014 Aug.
Artículo en Inglés | MEDLINE | ID: mdl-24447407

RESUMEN

BACKGROUND: Wilms tumor (WT) is the most common renal malignancy of childhood. The aim of this study was to verify the epidemiological profile and prognosis of a sample of patients from Brazil and compare them to similar data from other Latin American studies. METHOD: The sample consisted of consecutive patients diagnosed with WT in an oncohematology service of a referral hospital in Southern Brazil, between 1989 and 2009. Clinical, radiological, pathological and survival data were collected from the medical records. Analysis was done using Excel and SPSS version 18.0. The significance level was set at P < 0.05. RESULTS: The final sample consisted of 45 patients. The male/female ratio was 1.25:1. Mean age at diagnosis was 43.9 months and all patients were of European descent. Thirty-three patients (73.3%) had both signs/symptoms of abdominal mass and hypertension. Malformation was observed in nine patients (20%) and there was one case of Fanconi's anemia (2.2%). Three patients had bilateral disease (6.7%). The majority of patients had stage III and IV (62.2%). Patients with malformation had an earlier age at diagnosis (P = 0.018) and a higher prevalence of bilateral disease (P = 0.044). Overall survival was 75%. Age at diagnosis was the only significant independent predictor associated with death. CONCLUSION: Death is closely related to late diagnosis in WT. Oncologic services should also be concerned about morbidity caused by therapeutic options in cases of late diagnosis, and the consequences for quality of life.


Asunto(s)
Neoplasias Renales/epidemiología , Tumor de Wilms/epidemiología , Brasil/epidemiología , Preescolar , Femenino , Hospitales , Humanos , Lactante , América Latina , Masculino , Pronóstico
9.
Environ Monit Assess ; 186(4): 2195-204, 2014 Apr.
Artículo en Inglés | MEDLINE | ID: mdl-24292950

RESUMEN

The search for reliable biomarkers of human exposure to benzene and its derivatives is still subject of research. Many of the proposed biomarkers have limitations ranging from the low sensitivity to the wide variability of results. Thus, the aim of our study was to assess the frequencies of chromosomal abnormalities (CA) and sister chromatid exchanges (SCE) in workers of gas stations, with (cases, n = 19) and without (local controls, n = 6) risk of exposure to benzene and its derivatives, comparing them with the results from the general population (external controls, n = 38). The blood dosages of benzene, toluene, and xylenes were measured in all participants. Blood solvent levels were compared with the findings obtained in cytogenetic evaluation and a research protocol which included data of the workplace, lifestyle, and health of the individuals. We did not detect the presence of benzene and its derivatives and did not find chromosomal damage that may be associated with the gas station activity in cases. Moreover, although we found an association of increased SCE and the working time in the local controls, the values found for SCE are within normal limits. Thus, our evaluation of SCE and CA reflected the levels of benzene and its derivatives observed in the blood. We believe, therefore, that SCE and CA may actually constitute possible tests for the evaluation of these exposures. However, we believe that further studies, including individuals at risk, are important to confirm this assertion.


Asunto(s)
Contaminantes Ocupacionales del Aire/toxicidad , Benceno/toxicidad , Exposición Profesional/análisis , Adulto , Contaminantes Ocupacionales del Aire/análisis , Contaminantes Ocupacionales del Aire/metabolismo , Benceno/análisis , Benceno/metabolismo , Biomarcadores/metabolismo , Aberraciones Cromosómicas/inducido químicamente , Femenino , Gasolina/toxicidad , Humanos , Masculino , Exposición Profesional/estadística & datos numéricos , Intercambio de Cromátides Hermanas/fisiología , Adulto Joven
10.
Rev Paul Pediatr ; 42: e2023169, 2024.
Artículo en Inglés | MEDLINE | ID: mdl-38922187

RESUMEN

OBJECTIVE: To verify the prevalence and perform the clinical characterization of oral clefts in a sample of patients with trisomy of chromosome 18 in Southern Brazil. METHODS: This was a retrospective cross-sectional study, performed in a reference clinical genetic service in Southern Brazil. The initial sample consisted of 77 patients diagnosed in the neonatal period with trisomy 18 treated at the Clinical Genetics Service of a referral hospital at Federal University of Health Sciences of Porto Alegre (UFCSPA). The patients' diagnosis was confirmed by karyotype and care was provided during their stay in the intensive care unit (ICU) of the hospital that is a reference in Southern Brazil for care for malformed patients. The period covered was from 1975 to 2020. RESULTS: During the study period, 77 patients diagnosed with trisomy 18 were treated, most of them in the ICU. Of these, 13 individuals were excluded due to incomplete data. The final sample consisted of 64 patients with an average age of 2.4 years of life, ranging from one day to 16 years old, the majority of whom were female. Regarding face dysmorphisms identified in the sample, three (4,68%) patients had cleft lip and two (3,11%) had cleft lip and palate. CONCLUSIONS: This study contributed to the recognition of the characteristics and prevalence of oral clefts in individuals with trisomy 18 in a sample of patients from Southern Brazil. In addition, we described the clinical alterations found in patients with oral clefts, as well as other associated comorbidities, such as cardiac, neurological and pulmonary comorbidities, as well as cranial and facial dysmorphisms.


Asunto(s)
Labio Leporino , Fisura del Paladar , Síndrome de la Trisomía 18 , Humanos , Estudios Transversales , Femenino , Estudios Retrospectivos , Masculino , Síndrome de la Trisomía 18/epidemiología , Síndrome de la Trisomía 18/diagnóstico , Síndrome de la Trisomía 18/genética , Prevalencia , Adolescente , Recién Nacido , Brasil/epidemiología , Niño , Lactante , Preescolar , Fisura del Paladar/epidemiología , Fisura del Paladar/genética , Labio Leporino/epidemiología , Labio Leporino/genética
11.
Genes (Basel) ; 15(7)2024 Jul 12.
Artículo en Inglés | MEDLINE | ID: mdl-39062689

RESUMEN

Structural variation is a source of genetic variation that, in some cases, may trigger pathogenicity. Here, we describe two cases, a mother and son, with the same partial inverted duplication of the long arm of chromosome 8 [invdup(8)(q24.21q24.21)] of 17.18 Mb, showing different clinical manifestations: microcephaly, dorsal hypertrichosis, seizures and neuropsychomotor development delay in the child, and a cleft lip/palate, down-slanted palpebral fissures and learning disabilities in the mother. The deleterious outcome, in general, is reflected by the gain or loss of genetic material. However, discrepancies among the clinical manifestations raise some concerns about the genomic configuration within the chromosome and other genetic modifiers. With that in mind, we also performed a literature review of research published in the last 20 years about the duplication of the same, or close, chromosome region, seeking the elucidation of at least some relevant clinical features.


Asunto(s)
Cromosomas Humanos Par 8 , Humanos , Femenino , Masculino , Cromosomas Humanos Par 8/genética , Adulto , Inversión Cromosómica/genética , Microcefalia/genética , Microcefalia/patología , Duplicación Cromosómica/genética , Niño , Preescolar
12.
Birth Defects Res ; 116(1): e2289, 2024 Jan.
Artículo en Inglés | MEDLINE | ID: mdl-38126133

RESUMEN

BACKGROUND: Craniofacial microsomia (CM) is characterized by changes in the first and second branchial arches. It is a clinical condition whose etiology is still uncertain, but studies have shown that genetic, nutritional, and environmental factors can result in disorders of blastogenesis of the branchial arches. This study evaluates gestational aspects, focusing on possible risk factors associated with CM. METHODS: This is a case-control study conducted with patients monitored at a medical genetics service and compared to a control group of patients without evidence of malformations, born in a mother and child hospital, both located in Porto Alegre, Southern Brazil. Mothers' data were obtained using questionnaires and by reviewing medical records. The sample consisted of 43 patients with CM (cases) and 129 patients without evidence of malformations (controls), paired by sex, totaling three controls for each case. Data analysis was performed using the two-tailed Fisher's exact test, Pearson's chi-square test, and the t-test. RESULTS: We identified several factors associated with the development of CM, including the use of abortion methods by the mothers of these babies (p = .001), maternal diabetes (p = .009), advanced maternal age (p = .035), and a history of vaginal bleeding (p < .001). Furthermore, these patients exhibited a tendency to be born prematurely (p = .027), with low birth weight (p = .007), and lower Apgar scores (p = .003) when compared to healthy infants. Using a multivariate model, the use of abortion methods (p = .003) and vaginal bleeding (p = .032) remained independently associated with craniofacial microsomia. CONCLUSIONS: We have identified several risk factors for the development of CM, including a propensity for premature birth, low birth weight, and respiratory difficulties. Additionally, women of advanced maternal age and/or those who used abortion methods and/or have diabetes have a higher risk of giving birth to a baby with CM. This information can be valuable in clinical practice, especially for the prevention of future cases.


Asunto(s)
Diabetes Gestacional , Síndrome de Goldenhar , Lactante , Niño , Humanos , Embarazo , Femenino , Estudios de Casos y Controles , Síndrome de Goldenhar/epidemiología , Factores de Riesgo , Hemorragia Uterina
13.
Rev Paul Pediatr ; 42: e2023134, 2024.
Artículo en Inglés | MEDLINE | ID: mdl-38359320

RESUMEN

OBJECTIVE: To evaluate the prognosis and influence of associated factors in patients with congenital heart disease admitted for the first time to the Intensive Care Unit of the Hospital da Criança Santo Antônio/Irmandade da Santa Casa de Misericórdia de Porto Alegre, especially those factors associated with death. METHODS: Patients were prospectively and consecutively allocated over a period of one year (August 2005 to July 2006). Now, 15 years after the initial selection, we collected data from these patients in the database of the Cytogenetics Laboratory of the Universidade Federal de Ciências da Saúde de Porto Alegre and in the medical records of the hospital. RESULTS: Of the 96 patients, 11 died and 85 were alive until 20 years old. Four patients died in the Intensive Care Unit. The survival probability up to 365 days of life was 95.8%. The survival assessment identified that the deaths occurred mainly before the patients completed one thousand days of life. We found that complex heart disease was independently associated with an odds ratio of 5.19 (95% confidence interval - CI:1.09-24.71; p=0.038) for death. CONCLUSIONS: Knowledge about the factors that interfere with the prognosis can be crucial in care practice planning, especially considering that congenital heart disease is an important cause of mortality in the first year of life.


Asunto(s)
Cardiopatías Congénitas , Hospitalización , Humanos , Adulto Joven , Adulto , Pronóstico , Hospitales , Oportunidad Relativa , Cardiopatías Congénitas/diagnóstico
14.
Sao Paulo Med J ; 142(5): e2023186, 2024.
Artículo en Inglés | MEDLINE | ID: mdl-38655982

RESUMEN

BACKGROUND: Some maternal characteristics are related to alcohol intake during pregnancy, which irreversibly compromises the maternal-fetal binomial integrity. OBJECTIVES: To identify the frequency, impact, and factors associated with alcohol consumption during pregnancy. DESIGN AND SETTING: A cross-sectional study was performed at the Hospital Materno Infantil Presidente Vargas (HMIPV) in Porto Alegre/RS between March and December 2016. METHODS: A structured questionnaire was administered along with a medical records review. They refer to the maternal sociodemographic and gestational status, alcohol consumption patterns, and characteristics of the fetus/newborn. In the statistical analysis, P values < 0.05 were considered significant. RESULTS: The frequency of alcohol intake was 37.3%; this was characterized by the consumption of fermented beverages (89.3%), especially during the first trimester (79.6%). Risky consumption (high and/or early) occurred for 30.2% of participants. Risk factors associated with maternal alcohol consumption during pregnancy were tobacco use (P < 0.001) and abortion attempt (P = 0.023). Living with a partner (P = 0.002) and planning pregnancy (P = 0.009) were protective factors. Risky consumption was related to all of the aforementioned variables as well as threatened abortion (P = 0.023). CONCLUSIONS: Alcohol intake during pregnancy is common and affects nearly one-third of pregnant women. Knowledge of the population at risk and protective factors is essential for the development of campaigns that seek to reduce consumption and, therefore, its consequences for the mother and fetus.


Asunto(s)
Consumo de Bebidas Alcohólicas , Factores Socioeconómicos , Humanos , Femenino , Embarazo , Consumo de Bebidas Alcohólicas/epidemiología , Consumo de Bebidas Alcohólicas/efectos adversos , Estudios Transversales , Brasil/epidemiología , Adulto , Adulto Joven , Factores de Riesgo , Encuestas y Cuestionarios , Adolescente , Factores Sociodemográficos
15.
Neuromolecular Med ; 25(3): 441-450, 2023 09.
Artículo en Inglés | MEDLINE | ID: mdl-37610648

RESUMEN

Glioblastoma (GBM) is the most frequent tumor of the central nervous system, and its heterogeneity is a challenge in treatment. This study examined tumoral heterogeneity involving PDGFRA, KIT, and KDR gene amplification (GA) in 4q12 and its association with clinical parameters. Specimens from 22 GBM cases with GA for the 4q12 amplicon detected by FISH were investigated for homogeneous or heterogeneous coamplification patterns, diffuse or focal distribution of cells harboring GA throughout tumor sections, and pattern of clustering of fluorescence signals. Sixteen cases had homogenously amplification for all three genes (45.5%), for PDGFRA and KDR (22.7%), or only for PDGFRA (4.6%); six cases had heterogeneous GA patterns, with subpopulations including GA for all three genes and for two genes - PDGFRA and KDR (13.6%), or GA for all three and for only one gene - PDGFRA (9.1%) or KIT (4.6%). In 6 tumors (27.3%), GA was observed in focal tumor areas, while in the remaining 16 tumors (72.7%) it was diffusely distributed throughout the pathological specimen. Amplification was universally expressed as double minutes and homogenously stained regions. Coamplification of all three genes PDGFRA, KIT, and KDR, age ≥ 60 years, and total tumor resection were statistically associated with poor prognosis. FISH proved effective for detailed interpretation of molecular heterogeneity. The study uncovered an even more diverse range of amplification patterns involving the 4q12 oncogenes in GBM than previously described, thus highlighting a complex tumoral heterogeneity to be considered when devising more effective therapies.


Asunto(s)
Glioblastoma , Humanos , Persona de Mediana Edad , Sistema Nervioso Central , Aberraciones Cromosómicas , Relevancia Clínica , Amplificación de Genes , Glioblastoma/genética , Proteínas Tirosina Quinasas Receptoras , Receptor 2 de Factores de Crecimiento Endotelial Vascular/genética , Receptor alfa de Factor de Crecimiento Derivado de Plaquetas/metabolismo
16.
Rev Paul Pediatr ; 42: e2022125, 2023.
Artículo en Inglés | MEDLINE | ID: mdl-37436242

RESUMEN

OBJECTIVE: The aim of this study was to sum up and characterize all Williams-Beuren syndrome cases diagnosed by fluorescence in situ hybridization (FISH) since its implementation, as well as to discuss FISH as a cost-effective methodology in developing countries. DATA SOURCE: From January 1986 to January 2022, articles were selected using the databases in PubMed (Medline) and SciELO. The following terms were used: Williams syndrome and In Situ Hybridization, Fluorescence. Inclusion criteria included Williams-Beuren syndrome cases diagnosed by FISH with a stratified phenotype of each patient. Only studies written in English, Spanish, and Portuguese were included. Studies with overlapping syndromes or genetic conditions were excluded. DATA SYNTHESIS: After screening, 64 articles were included. A total of 205 individuals with Williams-Beuren syndrome diagnosed by FISH were included and further analyzed. Cardiovascular malformations were the most frequent finding (85.4%). Supravalvular aortic stenosis (62.4%) and pulmonary stenosis (30.7%) were the main cardiac alterations described. CONCLUSIONS: Our literature review reinforces that cardiac features may be the key to early diagnosis in Williams-Beuren syndrome patients. In addition, FISH may be the best diagnostic tool for developing nations that have limited access to new technologic resources.


Asunto(s)
Síndrome de Williams , Humanos , Síndrome de Williams/diagnóstico , Síndrome de Williams/genética , Países en Desarrollo , Hibridación Fluorescente in Situ , Fenotipo
17.
Genes (Basel) ; 14(8)2023 08 03.
Artículo en Inglés | MEDLINE | ID: mdl-37628634

RESUMEN

We report the first case of a child with 16p11.2 microduplication syndrome with increased fluid in the cisterna magna seen on magnetic resonance imaging (MRI). This finding may correspond to a Blake's Pouch Cyst (BPC) or a Mega Cisterna Magna (MCM), being impossible to differentiate through image examination. The molecular duplication was diagnosed using chromosomal microarray analysis with single nucleotide polymorphism (SNP). We review the clinical and neuroimaging features in published case reports in order to observe the findings described in the literature so far and present a skull three-dimensional model to contribute to a better understanding. Despite the variable expressivity of the syndrome being well known, there is no case described in the available literature that mentions the association of 16p11.2 microduplication and the presence of BPC or MCM seen in neuroimaging exams. This finding may represent an extension of the phenotype not yet reported or may present itself as a coincidence in a child with various malformations.


Asunto(s)
Estructuras Cromosómicas , Cabeza , Humanos , Neuroimagen , Fenotipo , Polimorfismo de Nucleótido Simple , Síndrome
18.
J Pediatr Genet ; 12(2): 113-122, 2023 Jun.
Artículo en Inglés | MEDLINE | ID: mdl-37090828

RESUMEN

Congenital heart defects (CHDs) are one of the most prevalent clinical features described in individuals diagnosed with 22q11.2 deletion syndrome (22q11.2DS). Therefore, cardiac malformations may be the main finding to refer for syndrome investigation, especially in individuals with a mild phenotype. Nowadays, different cytogenetic methodologies have emerged and are used routinely in research laboratories. Hence, choosing an efficient technology and providing an accurate interpretation of clinical findings is crucial for 22q11.2DS patient's diagnosis. This systematic review provides an update of the last 20 years of research on 22q11.2DS patients with CHD and the investigation process behind each diagnosis. A search was performed in PubMed, Embase, and LILACS using all entry terms to DiGeorge syndrome, CHDs, and cytogenetic analysis. After screening, 60 papers were eligible for review. We present a new insight of ventricular septal defect as a possible pivotal cardiac finding in individuals with 22q11.2DS. Also, we describe molecular technologies and cardiac evaluation as valuable tools in order to guide researchers in future investigations.

19.
Sao Paulo Med J ; 141(5): e2022426, 2023.
Artículo en Inglés | MEDLINE | ID: mdl-37042862

RESUMEN

BACKGROUND: Chromosomal abnormalities (CAs) have been described in patients with secondary amenorrhea (SA). However, studies on this association are scarce. OBJECTIVES: To evaluate the frequency and types of CAs detected by karyotyping in patients with SA. DESIGN AND SETTING: This retrospective study was performed in a reference clinical genetic service in South Brazil. METHODS: Data were obtained from the medical records of patients with SA who were evaluated between 1975 and 2022. Fisher's bicaudate exact test and Student's t-test were used, and P < 0.05 was considered significant. RESULTS: Among 43 patients with SA, 14 (32.6%) had CAs, namely del (Xq) (n = 3), 45,X (n = 2), 46,X,r(X)/45,X (n = 2), 46,XX/45,X (n = 1), 46,X,i(q10)/45,X (n = 1), 47,XXX (n = 1), 46,XX/47,XXX (n = 1), 46,XX/47,XX,+mar (n = 1), 45,XX,trob(13;14)(q10;q10)/46,XXX,trob(13;14)(q10;q10) (n = 1), and 46,XX,t(2;21)(q23;q11.2) (n = 1). Additional findings were observed mostly among patients with CA compared with those without CA (P = 0.0021). No difference in the mean age was observed between the patients with SA with or without CAs (P = 0.268025). CONCLUSIONS: CAs are common among patients with SA, especially those with short stature and additional findings. They are predominantly structural, involve the X chromosome in a mosaic, and are compatible with the Turner syndrome. Patients with SA, even if isolated, may have CAs, particularly del (Xq) and triple X.


Asunto(s)
Amenorrea , Aberraciones Cromosómicas , Femenino , Humanos , Estudios Retrospectivos , Amenorrea/genética , Cariotipificación
20.
Pediatr Int ; 53(4): 551-7, 2011 Aug.
Artículo en Inglés | MEDLINE | ID: mdl-21342361

RESUMEN

BACKGROUND: Congenital heart disease (CHD) is a serious threat to public health. Despite this, its etiology is poorly understood and few cardiac teratogens have been defined. The aim of the present study was to identify gestational and family risk factors for CHD in a sample of patients from a pediatric hospital in southern Brazil. METHODS: A prospective and consecutive sample from subjects with or without CHD, hospitalized at a pediatric intensive care unit, was enrolled. All patients with CHD underwent a GTG-banding karyotype. Chromosomal abnormalities were observed in 47 subjects (15.8%), and these were excluded from the study. The final sample consisted of 250 CHD subjects and 303 controls. RESULTS: After statistical analysis, using logistic regression, the variables age, rural location, gestational loss, use of anti-hypertensive medication, antibiotics and alcohol in the first trimester of pregnancy were all independently associated with CHD. These results were similar to those of some studies and different from others. It should be noted, however, that, for several variables, the data in the literature as well as the present study were insufficient to determine risk. CONCLUSIONS: Some differences found may be explained by genetic factors and sociocultural diversity. In contrast, because CHD consists of a heterogeneous group of lesions, the etiology may vary. The standardization of research data and classification of methods for future studies are essential.


Asunto(s)
Cardiopatías Congénitas/etiología , Anomalías Inducidas por Medicamentos/epidemiología , Anomalías Inducidas por Medicamentos/genética , Adolescente , Brasil , Niño , Preescolar , Salud de la Familia , Femenino , Cardiopatías Congénitas/inducido químicamente , Cardiopatías Congénitas/epidemiología , Cardiopatías Congénitas/genética , Humanos , Lactante , Cariotipificación , Modelos Logísticos , Masculino , Embarazo , Estudios Prospectivos , Factores de Riesgo
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