Turner Mosaic Karyotype in a Patient with Short Stature: A Rare Case Report GD01-GD03
Dr. K Indumathi,
Assistant Professor, Department of Pathology, Institute of Child Health and Hospital for Children, Madras Medical College, Chennai-600008, Tamil Nadu, India.
Turner syndrome is a 'complex developmental disorder in females caused by complete or partial absence of the second sex chromosome (monosomy X) X or Y, resulting in haploinsufficiency of multiple genes'. It is the only monosomy that is compatible with life. Turner syndrome affects almost 1 in 2,500 live female births. The most common phenotype observed in Turner patients is 45,X in more than 50% followed by isochromosome in about 5-10% subjects. Presence of similar copies of one arm of the chromosome and none of the other is defined as the isochromosome, resulting in partial monosomy of one arm and trisomy of the other which could be attributed to the abnormal transverse misdivision of centromere taking places during the meiotic or postzygotic cell division in the premeiotic gamete. The proband in the case report was referred for short stature and she revealed a rare Turner mosaic mos 45,X(6)/47,X,i(X)(q10),i(X)(q10)(6)/46,X,i(X)(q10) karyotype. This article aimed to delineate the genotypic and phenotypic features exhibited by the patient.