Medicina Fluminensis, Vol. 47 No. 1, 2011.
Kratko priopćenje
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
; Zavod za biologiju i medicinsku genetiku, Medicinski fakultet Sveučilišta u Rijeci
Alena Buretić-Tomljanović
; Zavod za biologiju i medicinsku genetiku, Medicinski fakultet Sveučilišta u Rijeci
Saša Ostojić
; Zavod za biologiju i medicinsku genetiku, Medicinski fakultet Sveučilišta u Rijeci
Jadranka Vraneković
; Zavod za biologiju i medicinsku genetiku, Medicinski fakultet Sveučilišta u Rijeci
Nenad Bićanić
; Zavod za endokrinologiju, dijabetes i bolesti metabolizma, Klinika za internu medicinu, KBC Rijeka
Miljenko Kapović
; Zavod za biologiju i medicinsku genetiku, Medicinski fakultet Sveučilišta u Rijeci
Sažetak
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.
Ključne riječi
amenorrhea; dysmorphology; genetics; mosaic karyotype
Hrčak ID:
66098
URI
Datum izdavanja:
7.3.2011.
Posjeta: 4.185 *