Case Report of Ring Chromosome 13: 46,XX,r(13)(p13q34)/46,XX,dic r(13;13)(p13q34;p13q34)
Journal Title: Journal of Advances in Medicine and Medical Research - Year 2015, Vol 5, Issue 1
Abstract
Aims: To report a case of ring chromosome 13 in a female child. Presentation of Case: Female, Caucasian, born in Southeast of Brazil, 6 years old. Born by cesarean section, the physical examination at 6 years and 1 month old has shown: weight of 19.100 grams and 105 centimeters tall, developmental delay, bushy eyebrows, epicanthic folds and broad nasal bridge, cardiovascular and respiratory systems were normal and no abnormalities in the limbs. Chromosome analysis was performed by GTG banding of peripheral blood and the karyotype was 46,XX,r(13)(p13q34)[97]/46,XX,dic r(13;13)(p13q34;p13q34) [3]. Analysis of 100 metaphases following G-banding revealed 97% cells with a ring chromosome 13,3% with dicentric ring chromosome of two 13s. Aneuploidy was not detected. Her parents had a normal karyotype. Discussion: Some researchers relate the clinical presentation of ring chromosome 13 with the extension of the deleted chromosomal region and instability. Others suggested that phenotypes of patients can be categorized in groups, according to the breakpoint on 13q. Conclusion: The classification of cases in groups based on breakpoints and chromosomal instability is still inaccurate, with variable phenotypes. Thus, the analysis of a greater number of cases and molecular analysis are important to establish more precise correlation between genotype and phenotype.
Authors and Affiliations
Maurício Assis Rodrigues, Renata Vasconcelos Moreira, Patrícia Damasceno Ribeiro
Keywords
Related Articles
- EP ID EP348217
- DOI 10.9734/BJMMR/2015/11666
- Views 69
- Downloads 0
Differential Impact of Parental BMI and Diet on Overweight and Obesity in Young School Children in Southern Brazil
Aims: To analyze simultaneous impact of biological, socioeconomic and behavioral determinants of excess weight in schoolchildren. Study Design: Cross-sectional study based on a representative sample of schoolchildren fr...
The Effect of Buprenorphine and Bupropion in the Treatment of Methamphetamine Dependency and Craving
Background: Methamphetamine dependency and abuse is a growing problem in the world. Objective: To compare efficacy of buprenorphine and bupropion in the treatment of methamphetamine craving in a single case. Results: Bup...
Gender Satisfaction among Type 2 Diabetes Patients: A Comparison between Intensive Diets, Lifestyle Intervention with Medication Controlled Management
Background: Exactly when to initiate insulin in recent onset Type 2 Diabetes Mellitus (T2DM) remains unclear. Emerging evidence suggests that increased physical activity and weight loss can delay or prevent the onset of...
Patient Dignity in Coronary Care: Psychometrics of the Persian Version of the Patient Dignity Inventory
Aim: The Patient Dignity Inventory (PDI) is a valid and reliable questionnaire. This questionnaire was created by Chochinov in 2002 and is used to measure various sources of distress related to the dignity of patients. T...
Hemodynamic Responses and the Sustainability of Force during Submaximal Isometric Handgrip Exercise: Are There Sex Differences?
Background: Sex related differences in the control of blood pressure at resting conditions have been previously reported. Studies in rodents have also shown that during exercise, female animals have an enhanced capacity...