Inheritance of pericentric inversion in chromosome 7 through the three progenies and a newborn with congenital hydronephrosis diagnosed prenatally by fetal urine sampling.

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.