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Isodicentric X chromosome and complex mosaicism 45,X/46,X,idic(X)(q28)/46,XX in a patient with secondary amenorrhea, tall stature and obesity

Nina Pereza ; Department of biology and medical genetics, Faculty of medicine, University of Rijeka, Croatia
Alena Buretić-Tomljanović ; Department of biology and medical genetics, Faculty of medicine, University of Rijeka, Croatia
Saša Ostojić ; Department of biology and medical genetics, Faculty of medicine, University of Rijeka, Croatia
Jadranka Vraneković ; Department of biology and medical genetics, Faculty of medicine, University of Rijeka, Croatia
Nenad Bićanić ; Department of endocrinology, diabetes and metabolism disorders, Clinics for internal medicine, Clinical hospital centre Rijeka, Croatia
Miljenko Kapović ; Department of biology and medical genetics, Faculty of medicine, University of Rijeka, Croatia

Abstract

Aim: Isodicentric X chromosome is a structural chromosome aberration which leads to ovarian dysfunction associated with primary or secondary amenorrhea. The variability of clinical features depends on the position of the breakpoint, mosaicism and pattern
of X inactivation. We present a case of a patient with mosaic karyotype and isodicentric X chromosome with breakpoint in the region q28.
Case report: The patient is a 47-year-old woman with secondary amenorrhea, obesity, tall stature and craniofacial dysmorphy. She
had menarche at the age of 16 and no spontaneous menstrual cycles after the fourth cycle. The patient was diagnosed with hypergonadotropic hypogonadism and hormone therapy was introduced. The latest pelvic sonography detected a normally shaped and sized uterus and small ovaries of homogenous structure. The patient has been obese since childhood and her current weight is 144kg, height 180cm (BMI 44kg/m2). She has craniofacial dysmorphy including thin and elongated face, pointed chin and
large nose. Clinical features typical of Turner syndrome are not present. A mosaic karyotype was determined by classical and molecular cytogenetic analyses. The karyotype of the patient based on fluorescent in-situ hybridization is: mos45,X[8]/46,X,idic(X)(pter→q28:q28→pter)[14]/46,XX[1].nuc ish(CEPXx1) [30/100]/ (CEPXx2)[18/100]/(CEPXx3)[52/100].
Discussion: Clinical features of the patient are presented and compared with the clinical features of the previously published cases with isodicentric X chromosome with breakpoint located at the chromosomal region Xq28. Although isodicentric X chromosome is a rare genetic disorder, it is necessary to recognize women with primary or secondary amenorrhea, growth disorder and other congenital anomalies which point to a genetic cause, by primary healtcare physicians and other specialists and refer the women to the
proper medical institution for genetic testing and genetic counseling.

Keywords

amenorrhea; dysmorphology; genetics; mosaic karyotype

Hrčak ID:

66098

URI

https://hrcak.srce.hr/66098

Publication date:

7.3.2011.

Article data in other languages: croatian

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