Partial and mixed gonadal dysgenesis (PGD MGD) are characterized by genital ambiguity the finding of either a streak gonad dysgenetic testis or two testes. The karyotype in PGD is 46,XY, whereas 45,X/46,XY mosaicism its variants (more than lineages and/or structural abnormalities Y chromosome) generally found MGD. Such mosaics also compatible with female phenotype Turner syndrome, ovotesticular disorder sex development, infertility men normal external genitalia. During last few years,...

Background: Headache, or cephalalgia, is one of the 20 most disabling diseases in world and affects a large portion world's population.People generally use over-the-counter medications to treat headaches other minor symptoms.A pharmacist should help patients choose effective, safe, convenient pharmacotherapeutic option.Objective: To assess counselling skills community pharmacists for headache management by using simulated patient approach.Methods: A cross-sectional study was conducted from...

Microdeletions in the chromosomal region 17p13.3 are associated with neuronal migration disorders, and PAFAB1H1 is main gene involved. The largest genomic imbalances, including YWHAE CRK genes, cause more severe structural abnormalities of brain other dysmorphic features. Here, we describe a 3-year-old boy microdeletion presenting minor facial dysmorphisms, cleft palate, neurodevelopmental delay, behavioral disorder no malformation brain. patient was evaluated by clinician using standard...

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...

FISH has been used as a complement to classical cytogenetics in the detection of mosaicism sex chromosome anomalies. The aim this study is describe three cases which final diagnosis could only be achieved by FISH. Case 1 was an 8-year-old 46,XY girl with normal female genitalia referred our service because short stature. analysis lymphocytes probes for X and Y centromeres identified 45,X/46,X,idic(Y) constitution, established Turner syndrome. 2 21-month-old boy genital ambiguity (penile...

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 Background The chromosomal microarray analysis (CMA) is recommended as a first‐tier test for individuals with developmental delay (DD)/intellectual disability (ID) and/or multiple congenital anomalies. However, owing to high costs, this technique not widely performed diagnostic purposes in several countries. aim of study was identify clinical features that could favour the hypothesis genomic imbalances (GIs) DD/ID. Methods sample consisted 63 individuals, and all them underwent...

The 22q11 chromosomal region contains low copy repeats (LCRs) sequences that mediate non‐allelic homologous recombination, which predisposes to number variations (CNVs) at this locus. Hemizygous deletions of the proximal 22q11.2 result in deletion syndrome (22q11.2 DS). In addition, duplications involving distal LCR22s have been reported. This article describes a patient presenting 2.5‐Mb de novo 22q11.21 (between LCRs A‐D), combined with 1.3‐Mb maternally inherited duplication 22q11.23...

This article presents a clinical and cytogenomic approach that focuses on the diagnosis of syndromic oral clefts (OCs).The inclusion criteria were individuals with OC presenting four or more minor signs no major defects (non-syndromic [NSOCs]) as well at least another defect, regardless number (syndromic [SOCs]). The exclusion included NSOC less than signs, SOC known etiology, atypical clefts.Of 1647 recorded in Brazilian Database Craniofacial Anomalies, 100 selected for chromosome...

Runs of homozygosity (ROH) in the human genome may be clinically relevant. The aim this study was to report frequency increased ROH autosomal individuals with neurodevelopmental delay/intellectual disability and/or multiple congenital anomalies, and compare these data a control group. Data consisted calls from 265 patients 289 controls. In total, 7.2% (19/265) showed exceeding 1% genome, compared 1.4% (4/289) group (p=0.0006). Homozygosity ranged 1.38% 22.12% among patients, 1.53 2.40% turn,...

Addressing the unmet health needs of persons living with congenital anomalies in low- and middle-income countries (LMIC) is a major challenge. Registries databases are exemplary tools capable to link research data programs. Since 2009, Brazil’s Craniofacial Project, multicenter voluntary initiative, collects socioeconomic, medical, genetic information on individuals craniofacial through Brazilian Database Anomalies (BDCA). This article discusses challenges provision assessment counselling...

Due to the low incidence and heterogeneous behavior of medullary thyroid carcinoma (MTC), its prognostic factors are still not well stablished. While several large studies have investigated impact gender in differentiated cancer (DTC), role MTC outcomes remains controversial. We aim identify features, specially focusing on gender.The present study is a retrospective analysis 76 patients diagnosed with between 1984 2018 at Portuguese Comprehensive Cancer Center.Patients presented median age...

Abstract Ovotesticular disorders of sex development (OT‐DSD) are characterized by ovarian follicles and seminiferous tubules in the same individual, with a wide range atypical genitalia. We report on two sibs genitalia SRY ‐negative 46,XX DSD, OT‐DSD was confirmed only boy, while girl had bilateral ovaries. Chromosome microarray analysis (CMA) showed 737‐kb duplication at Xq27.1 including entire SOX3 gene both sibs, which quantitative real time PCR. Also, X chromosome inactivation assay...

We describe a female patient of 1 year and 5 months-old, referred for genetic evaluation due to neuropsychomotor delay, hearing impairment dysmorphic features. The presents partial chromosome 21 monosomy (q11.2→q21.3) in combination with 3p terminal (p25.3→pter) an unbalanced de novo translocation. translocation was confirmed by fluorescence situ hybridization (FISH) the breakpoints were mapped high resolution array. After combined analyses these techniques final karyotype defined as...

Biallelic loss-of-function variants in the TBC1D2B gene were recently reported as a cause of neurodevelopmental disorder with seizures and gingival overgrowth. Here, we report two male siblings similar clinical characteristics. They started overgrowth bilateral growth soft tissues malar region at 3 years age, which evolved significant maxillary hypertrophy compression brainstem due to fibrous dysplasia facial bones. After disease evolution, they presented mental deterioration, limb tremors,...

A female individual with concomitant deletions in 15q11.2 and 19p13.3 is reported. She presents facial dysmorphisms, motor delay, learning difficulties, mild behavioral impairment. After chromosomal microarray analysis, the final karyotype was established as 46,XX.arr[GRCh37] (22770421_23282798)×1,19p13.3(3793904_4816330)×1. The deletion 507 kb size involving 7 non-imprinted genes, 4 of which are registered OMIM database implicated neuropsychiatric or neurodevelopmental disorders. 1,022...

<!DOCTYPE html> <html> <head> </head> <body> <p style="text-align: justify;"><strong>Objective: </strong>Unfractionated heparin and low molecular weight are the drugs most used today in coagulopathy. Although effective, these have limitations their usage, which aroused interest of scientific community researching other substances with a similar effect. This study aims to analyze anticoagulant activity isolated chemically modified pectin extracted from Caipira melon (<em>Cucumis melo</em>...

Objetivo: Verificar se a hibridização in situ por fluorescência (FISH) em células de mucosa oral poderia ser empregada para detectar criptomosaicismo com linhagem 45,X pacientes 46,XY. Sujeitos e métodos: Amostra 19 jovens saudáveis 46,XY cinco distúrbios da diferenciação do sexo (DDS), quatro 45,X/46,XY um FISH sondas específicas X Y núcleos interfásicos linfócitos investigar proporção contendo apenas o sinal cromossomo X. Resultados: A frequência nos dois tecidos dos homens não diferiu (p...

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 dysplasia/ADULT syndrome, the polymorphism rs16864880 gene, which was not present their parents. role of this variant genesis condition is discussed, based upon review 40 cases. results suggested that may be directly...