JOURNAL OF CLINICAL AND BIOMEDICAL SCIENCES

Article

Journal of Clinical and Biomedical Sciences

Year: 2013, Volume: 3, Issue: 3, Pages: 122-124

Original Article

Pedigree of fragile X syndrome – An option for reproductive planning

Abstract

Background: Five percentage of the public school population nationally is designated having Fragile X Syndrome (FXS). The present study aims to analyze the pedigrees of children with FXS. Methods: In the present study 86 children having FXS from different parts of Kerala were selected based on their Intelligence Quotient. The investigator prepared questionnaire for collecting the details of their family and on the basis of the data obtained, pedigree charts were prepared. Results: Pedigree is acting as one of the important tool to assess patients with FXS, as it plays a significant role in assessing the modes of inheritance, analysis, treatment, intervention programmes and moreover in planning of future generation. In the present study, detailed pedigree was collected from all the children with FXS, and the study proved that parents of affected children were scared of conceiving another child with same abnormality. Conclusion: A three generation pedigree revealed the problems like foetal loss, miscarriage, different genetic diseases in and among family members and others with clues to the unknown etiology. The study proved that there is a positive correlation between FXS and pedigree analysis.

Key words: Dyscalculia, Dysgraphia, Dyslexia, Fragile X Syndrome, Learning Disability, Pedigree

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