Screening of Group of Iraqi Patients with Turner’s Syndrome in Relation to Karyotype-Phenotype Variation

Authors

  • Muneera Fadhil Ridha
  • Amenah Fadhil Ridha
  • Ruqayah Gheyath yaseen
  • Ahmed Kamal Kasim

DOI:

https://doi.org/10.37506/ijfmt.v15i2.14825

Keywords:

Turner’s syndrome, Karyotype, Phenotype, Mosaicism.

Abstract

Background: There is variation in karyotype that can be related with the phenotype difference in patients
with Turner syndrome (TS).
Objective: Asses the relationship between karyotype and phenotype of confirmed Turner Syndrome patients
and Screening them for related congenital and immunological conditions.
Methods: Eighty-five cases of TS were comprised. Patients were indicated mainly for evaluation of short
stature and (or) delayed puberty; Standard karyotyping was analyzed on the basis of routine G-banding
technique. Turner’s syndrome is divided into traditional and non-traditional with further categorization with
respect 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 examination
in 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 traditional
TS than Non-traditional, p-value 0.01.
Conclusion: Screening of patients with Turner’s syndrome with respect to phenotype -karyotype difference
can provide opportunities for enhancement of our knowledge, diagnosis and further management.

Author Biographies

Muneera Fadhil Ridha

Senior Lecturer, Department of Pediatrics, University of Baghdad, College of Medicine, Baghdad, Iraq

Amenah Fadhil Ridha

Senior
Lecturer, Department of gynecology and Obstetrics ,Al Mustansiryha University, College of Medicine , Baghdad,
Iraq

Ruqayah Gheyath yaseen

Medical City Complex, Teaching laboratories ; Genetic counseling clinic and genetic laboratory .Baghdad,
Iraq

Ahmed Kamal Kasim

Medical City Complex, Teaching laboratories; Genetic counseling clinic and genetic laboratory. Baghdad,
Iraq

Published

2021-03-24

How to Cite

Muneera Fadhil Ridha, Amenah Fadhil Ridha, Ruqayah Gheyath yaseen, & Ahmed Kamal Kasim. (2021). Screening of Group of Iraqi Patients with Turner’s Syndrome in Relation to Karyotype-Phenotype Variation. Indian Journal of Forensic Medicine & Toxicology, 15(2), 2965-2970. https://doi.org/10.37506/ijfmt.v15i2.14825