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CC BY-NC-ND 4.0 · Journal of Health and Allied Sciences NU 2014; 04(04): 113-116
DOI: 10.1055/s-0040-1703848
Case Report

FEMALE PATIENT WITH A VARIANT OF TURNER SYNDROME

Meenakshi A.
1   Research Associate & Lecturer, K.S. Hegde Medical Academy, Nitte University, Mangalore - 575 018, India.
,
Prashanth Shetty
2   Professor & Co-ordinator, K.S. Hegde Medical Academy, Nitte University, Mangalore - 575 018, India.
,
Suchetha Kumari
3   Professor, K.S. Hegde Medical Academy, Nitte University, Mangalore - 575 018, India.
,
Jayarama Kadandale
4   E-Consultant, Diagnostic centre for Cytogenetics & Molecular Genetics, K.S. Hegde Medical Academy, Nitte University, Mangalore - 575 018, India.
,
Neetha Nandan
5   Associate Professor, Department of Obstetrics & Gynecology, K.S. Hegde Medical Academy, Nitte University, Mangalore - 575 018, India.
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Abstract

The X chromosome contains determinants necessary to assure normal structural growth. Deletions of proportions of the X chromosome have been reported in a huge number of patients. We report on a mosaic short arm deletion of X chromosome (Xp-) in 14-years-old female patient with short stature, low set ears and no secondary sexual characteristics, a rare Turner syndrome variant. Chromosomal analysis using GTG-banding showed in 85% of cells and 46, X, del(Xp) in 15% of cells. The Fluorescence in situ hybridization technique of the cultured cells helped to perceive low grade cell line. Hence, molecular cytogenetics methods are essential to detect low level mosaicism which is important in better counseling.

Keywords

Chromosomal analysis - sex chromosome - Fluorescence in situ hybridization - molecular cytogenetics


Publikationsverlauf

Artikel online veröffentlicht:
26. April 2020

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Thieme Medical and Scientific Publishers Private Ltd.
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