- 作者：Osman Demirhan ; Kenan Ö ; zcan ; Deniz Taş ; temir ; Cansun Demir ; Erdal Tunç ; Hü ; seyin A. Solğ ; un ; Ali İ ; rfan Gü ; zel
- 关键词：Congenital hydronephrosis ; recurrent miscarriages ; fetal urine ; cytogenetic diagnosis ; pericentric inversion 7
- 刊名：Fertility and Sterility
- 出版年：2008
- 出版时间：January 2008
- 年：2008
- 卷：89
- 期：1
- 页码：228.e1-228.e6
- 全文大小：531 K
Objective
To report the inheritance of a pericentric inversion in chromosome 7 through the three progenies, congenital hydronephrosis, and recurrent miscarriages in an extended family.Design
Case report.
Setting
Medical Faculty of Cukurova University in Turkey.
Patient(s)
Referred by obstetrics and gynecology clinic.
Intervention(s)
Fetal urine and lymphocytic karyotype.
Main Outcome Measure(s)
Chromosomal analysis from fetal urine and peripheral blood lymphocytes were performed according to standard cytogenetic methods.
Result(s)
We assessed an extended family in which a large pericentric inversion in chromosome 7 is segregating; one of the three progenies with the karyotype 46,XY,inv(7)(p22;q22) was heterozygote for the inversion and presented with congenital hydronephrosis. His mother, mother's brother, grandfather, grandfather's brother, and his daughter were similar for the inversion.
Conclusion(s)
This case describes the further molecular characterization of these breakpoints on the short or long arm of chromosome 7(p22-q22). The inv(7) is also associated with fetal wastage and may be playing a role in the etiology of the family's miscarriages. These findings can be used in clinical genetics and may be an effective tool for reproductive guidance and genetic counseling.