Balkan Journal of Medical Genetics

TURNER SYNDROME WITH ISOCHROMOSOME Xq AND FAMILIAL RECIPROCAL TRANSLOCATION t(4;16)(p15.2;p13.1)
Cetin Z1, Mendilcioglu I2, Yakut S1, Berker-Karauzum S1,*, Karaman B3, Luleci G1
*Corresponding Author: Sibel Berker-Karauzum, Department of Medical Biology and Genetics, Faculty of Medicine, Akdeniz University, Antalya, Turkey; Tel.: +90-242-249-69-70; Fax: + 90-242-227-44-82/227-44-95; E-mail: sibelkarauzum@akdeniz.edu.tr
page: 57

INTRODUCTION

Turner syndrome is a common genetic disorder affecting approximately 50 in 100,000 live-born females in Caucasian populations [1]. Considerable heterogeneity of phenotypic features are associated with Turner syndrome, the most consistent being short stature, gonadal dysgenesis, webbed neck, lymphedema, cubitus valgus. Cardiovascular malformations, bone and thyroid disorders, renal and liver dysfunctions may also be observed. The karyotype in approximately 50% of Turner syndrome patients is non mosaic monosomy X (45,X), followed in frequency by non mosaic isochromosomes of the chromosome X long arm [46,X,i(X) (q10)] and mosaicism of monosomy X and isochromosome Xq [2]. In addition, Xp or Xq deletions and ring (X) chromosomes may also be observed during cytogenetic analyses [3]. Coexistance of an familially transmitted autosomal translocation and Turner syndrome karyotype is a rare phenomenon and only a few cases were reported in the literature [4-10]. We here present a 16-year-old Turner syndrome patient who had an isochromosome of the long arm of chromosome X in a mosaic form and, like her mother, familial reciprocal translocation between chromosomes 4 and 16.

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