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All Journal Indian Journal of Forensic Medicine & Toxicology
Amenah Fadhil Ridha
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Public Health

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Screening of Group of Iraqi Patients with Turner’s Syndrome in Relation to Karyotype-Phenotype Variation Muneera Fadhil Ridha; Amenah Fadhil Ridha; Ruqayah Gheyath yaseen; Ahmed Kamal Kasim
Indian Journal of Forensic Medicine & Toxicology Vol. 15 No. 2 (2021): Indian Journal of Forensic Medicine & Toxicology
Publisher : Institute of Medico-legal Publications Pvt Ltd

Show Abstract | Download Original | Original Source | Check in Google Scholar | DOI: 10.37506/ijfmt.v15i2.14825

Abstract

Background: There is variation in karyotype that can be related with the phenotype difference in patientswith Turner syndrome (TS).Objective: Asses the relationship between karyotype and phenotype of confirmed Turner Syndrome patientsand Screening them for related congenital and immunological conditions.Methods: Eighty-five cases of TS were comprised. Patients were indicated mainly for evaluation of shortstature and (or) delayed puberty; Standard karyotyping was analyzed on the basis of routine G-bandingtechnique. Turner’s syndrome is divided into traditional and non-traditional with further categorization withrespect to Karyotype. After full examination, screening tests comprising thyroid function tests, celiac screen,Echocardiography, Renal and pelvic ultrasonography was achieved.Results: Webbed neck and Dysmorphic facial characteristics were more found during clinical examinationin traditional TS versus Non-traditional Turner’s syndrome with p-value of 0.01 and0.027, respectively.Abnormal thyroid function tests were more common in traditional TS than Non-traditional, p-value 0.02.Abnormal findings (mainly streak ovary) on pelvic ultrasound (US) was also more common in traditionalTS than Non-traditional, p-value 0.01.Conclusion: Screening of patients with Turner’s syndrome with respect to phenotype -karyotype differencecan provide opportunities for enhancement of our knowledge, diagnosis and further management.
Co-Authors Ahmed Kamal Kasim Muneera Fadhil Ridha Ruqayah Gheyath yaseen