<abstract xml:lang="en" xmlns="http://www.w3.org/1999/xhtml"><p>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).</p></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).

Turner Syndrome with Isochromosome Xq and Familial Reciprocal Translocation t(4;16)(p15.2;p13.1)

Department of Medical Biology and Genetics, Faculty of Medicine, Akdeniz University, Antalya, Turkey

Department of Obstetrics and Gynaecology, Faculty of Medicine, Akdeniz University, Antalya, Turkey

Prenatal Diagnosis Centre, Faculty of Medicine, Istanbul University, Istanbul, Turkey

Balkan Journal of Medical Genetics

We present here a 16-year-old Turner syndrome patient with a complex karyotype that includes a maternally-inherited balanced translocation between chromosomes...

Turner Syndrome with Isochromosome Xq and Familial Reciprocal Translocation t(4;16)(p15.2;p13.1)

Pubblicato online: 25 lug 2011

Pagine: 57 - 60

DOI: https://doi.org/10.2478/v10034-011-0019-y

Parole chiave
Turner syndrome, Reciprocal translocation, Cytogenetics, Isochromosome Xq

This content is open access.

Turner Syndrome with Isochromosome Xq and Familial Reciprocal Translocation t(4;16)(p15.2;p13.1)

Pubblicato online: 25 lug 2011

Pagine: 57 - 60

DOI: https://doi.org/10.2478/v10034-011-0019-y

Parole chiaveTurner syndrome, Reciprocal translocation, Cytogenetics, Isochromosome Xq

This content is open access.

Parole chiave
Turner syndrome, Reciprocal translocation, Cytogenetics, Isochromosome Xq