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
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Abstract
We present here a 16-year-old Turner syndrome
patient with a complex karyotype that includes a
maternally-inherited balanced translocation between
chromosomes 4 and 16 and mosaicism of the isochromosome
Xq10. Her karyotype was 45,X,t(4;16)
(p15.2;p13.1)[9]/46,X,i(X) (q10),t(4;16)(p15.2;p13.1)
[91]. The karyotype of her father was normal, whereas
that of her mother had the same balanced translocation
and numerical abnormalities of chromosome
X and was designated as 45,X,t(4;16)(p15.2;p13.1)
[2]/ 46,XX,t(4;16)(p15.2;p13.1)[93]/47,XXX,t(4;16)
(p15.2; p13.1)[5]. The two siblings of the patient also
had the same reciprocal translocation. We consider this
to be the first such patient with an inherited reciprocal
translocation and structural abnormality of the X chromosome
(isochromosome Xq).
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