Two cases of polydactyly in wild brown howler monkeys (Alouatta guariba clamitans).

We report the first two cases of polydactyly in an atelid species: (i) a wild ca. 16-week-old infant female presenting seven digits in both feet and other bone malformations and (ii) a wild newborn male presenting six digits in both feet with the extra digit fused to the hallux.

45,X/46,XY mosaicism: report on 14 patients from a Brazilian hospital. A retrospective study.

Context And Objective: 45,X/46,XY mosaicism, or mixed gonadal dysgenesis, is considered to be a rare disorder of sex development. The aim of our study was to investigate the clinical and cytogenetic characteristics of patients with this mosaicism.

Design And Setting: A retrospective study in a referral hospital in southern Brazil.

Clinical and cytogenetic features of a Brazilian sample of patients with phenotype of oculo-auriculo-vertebral spectrum: a cross-sectional study.

Context And Objective: Oculo-auriculo-vertebral spectrum (OAVS) is considered to be a defect of embryogenesis involving structures originating from the first branchial arches. Our objective was to describe the clinical and cytogenetic findings from a sample of patients with the phenotype of OAVS.

Design And Setting: Cross-sectional study in a referral hospital in southern Brazil.

Congenital heart disease and chromossomopathies detected by the karyotype.

Objective: To review the relationship between congenital heart defects and chromosomal abnormalities detected by the karyotype.

Data Sources: Scientific articles were searched in MEDLINE database, using the descriptors "karyotype" OR "chromosomal" OR "chromosome" AND "heart defects, congenital". The research was limited to articles published in English from 1980 on.

Gómez-López-Hernández syndrome in a child born to consanguineous parents: new evidence for an autosomal-recessive pattern of inheritance?

Background: Gómez-López-Hernández syndrome is a rare genetic disease characterized by scalp alopecia with trigeminal anesthesia, brachycephaly or turribrachycephaly, midface retrusion, and rhombencephalosynapsis. We report the second case with this condition who presented with consanguineous parents.

Patient: This boy was evaluated shortly after birth because of suspected craniosynostosis.

Evaluation of genotoxic effects of benzene and its derivatives in workers of gas stations.

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).

Chromosomal abnormalities in patients with congenital heart disease.

Background: Chromosomal abnormalities (CAs) are an important cause of congenital heart disease (CHD).

Objective: Determine the frequency, types and clinical characteristics of CAs identified in a sample of prospective and consecutive patients with CHD.

Method: Our sample consisted of patients with CHD evaluated during their first hospitalization in a cardiac intensive care unit of a pediatric referral hospital in Southern Brazil.

Tri-allelic pattern at the TPOX locus: a familial study.

Alleles at the TPOX STR locus have 6-14 different numbers of a four-nucleotide (AATG) repeat motif arranged in tandem. Although tri-allelic genotypes are generally rare, the TPOX tri-allelic pattern has a higher frequency, varying widely among populations. Despite this, there are few accurate reports to disclose the nature of the TPOX third allele.

Craniofacial abnormalities among patients with Edwards Syndrome.

Unlabelled: OBJECTIVE To determine the frequency and types of craniofacial abnormalities observed in patients with trisomy 18 or Edwards syndrome (ES). METHODS This descriptive and retrospective study of a case series included all patients diagnosed with ES in a Clinical Genetics Service of a reference hospital in Southern Brazil from 1975 to 2008. The results of the karyotypic analysis, along with clinical data, were collected from medical records.

Trisomy 18 and neural tube defects.

Background: Trisomy 18 or Edwards syndrome is a chromosomal abnormality characterized by a broad clinical picture and a limited survival. More than 130 different abnormalities have been described in these patients-among them are neural tube defects.

Methods: We verified the frequency and types of major neural tube defects observed among patients with trisomy 18.

Congenital heart defects and extracardiac malformations.

Objective: To review the association between congenital heart defects and extracardiac malformations.

Data Sources: Scientific articles were searched in the Medline, Lilacs, and SciELO databases, using the descriptors "congenital heart disease," "congenital heart defects," "congenital cardiac malformations," "extracardiac defects," and "extracardiac malformations." All case series that specifically explored the association between congenital heart defects and extracardiac malformations were included.

Trisomy 18: review of the clinical, etiologic, prognostic, and ethical aspects.

Objective: To review the clinical, etiological, diagnostic, and prognostic characteristics of trisomy 18 (Edwards syndrome).

Data Sources: Scientific articles in the MedLine, Lilacs, and SciELO databases were searched using the descriptors 'trisomy 18' and 'Edwards syndrome'. The research was not limited to a specific time period and included all articles in such databases.

Clinical features and prognosis of a sample of patients with trisomy 13 (Patau syndrome) from Brazil.

Trisomy 13 or Patau syndrome (PS) is a chromosomal disorder characterized by a well known presentation of multiple congenital anomalies. Our objective was to determine the clinical features and prognosis observed in a sample of patients with PS. The series was composed of patients with diagnosis of PS consecutively evaluated by a Clinical Genetics Service from a reference hospital of southern Brazil, in the period between 1975 and 2012.

Malformations detected by abdominal ultrasound in children with congenital heart disease.

Background: Extracardiac malformations may be present in patients with congenital heart disease (CHD), bringing greater risk of comorbidity and mortality.

Objective: Verify frequency and types of abdominal abnormalities detected in children with and without CHD through abdominal ultrasound (AUS), compare the patients in relation to their dysmorphic/cytogenetic findings and perform an estimative of the cost-effectiveness of the screening through AUS.

Methods: We conducted a cross-sectional study with a control cohort.

Cytogenetic response to imatinib treatment in Southern Brazilian patients with chronic myelogenous leukemia and variant Philadelphia chromosome.

Variant Philadelphia (Ph) chromosome can be observed in 5-10 % of chronic myelogenous leukemia (CML) patients. However, there are only a few studies which have analyzed the prognostic implications of these complex translocations in CML patients after the advent of imatinib mesylate and the results found are conflicting. We investigated the clinical features and cytogenetic response of Brazilian chronic phase (CP) CML patients with variant Ph treated with imatinib mesylate.

Limb abnormalities on trisomy 18: evidence for early diagnosis.

Objective: To assess the frequency and types of limb abnormalities observed among patients with trisomy 18, or Edwards syndrome (ES).

Method: The sample consisted of consecutive patients evaluated by a clinical genetics service in the period from 1975 to 2008. The results of the cytogenetic analysis, as well as the clinical data were retrieved from the medical records, with special attention to limb abnormalities findings.

Type 1 diabetes in a patient with Ellis-van Creveld syndrome.

Context: Ellis-van Creveld (EVC) syndrome is a rare autosomal recessive disease characterized by disproportionate short stature, narrow thorax, postaxial polydactyly, nail and tooth abnormalities and congenital heart disease.

Case Report: The patient was a 22-year-old Caucasian man, the third child of consanguineous parents. He received the diagnosis of insulin-dependent diabetes mellitus (DM) at 16 years of age, and around one year later, he underwent surgery to correct a partial atrioventricular septal defect.

New report of two patients with mosaic trisomy 9 presenting unusual features and longer survival.

Context: Mosaic trisomy 9 is considered to be a rare chromosomal abnormality with limited survival. Our objective was to report on two patients with mosaic trisomy 9 presenting unusual findings and prolonged survival.

Case Reports: The first patient was a boy aged six years and five months presenting weight of 14.