Screening of Group of Iraqi Patients with Turner’s Syndrome in Relation to Karyotype-Phenotype Variation
Keywords:Turner’s syndrome, Karyotype, Phenotype, Mosaicism.
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.
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