Multiple Aneuploidy: First Report of a Patient Presenting with a Karyotype 45,X/48,XXX,+21.

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.

Patients with genital ambiguity referred without a sex definition: the relationship between clinical picture and defined sex of rearing.

Objective: It was to verify the association between the definition of sex of rearing and, clinical and cytogenetic features among patients with genital ambiguity referred without a sex assignment.

Methods: The sample consisted of 133 patients with genital ambiguity seen at a single reference service. These patients did not have a defined social sex at the first consultation and their etiological diagnosis was obtained during follow-up.

Clinical and laboratory differences between chromosomal and undefined causes of non-obstructive azoospermia: A retrospective study.

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).

Sex dimorphism of weight and length at birth: evidence based on disorders of sex development.

Background: Males have higher weight and length at birth than females.

Aim: To verify the influence of the Y chromosome and the action of intrauterine androgens on weight and length at birth of children with Disorders of Sex Development (DSD).

Subjects And Methods: A cross-sectional and retrospective study.

Correlation between genetic and environmental risk factors for age-related macular degeneration in Brazilian patients.

Purpose: To analyze the correlations between age-related macular degeneration (AMD) and genetic and environmental risk factors for in a Brazilian population.

Design: Cross-sectional study with a control group.

Methods: We collected data on 236 participants 50 years of age or older (141 with AMD and 95 controls without the disease).