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

• Published in: Fertility and sterility Vol. 89; no. 1; pp. 228.e1 - 228.e6
• Main Authors: Demirhan, Osman, Ph.D, Özcan, Kenan, M.D, Taştemir, Deniz, M.Sc, Demir, Cansun, M.D, Tunç, Erdal, M.Sc, Solğun, Hüseyin A., M.D, Güzel, Ali İrfan, Ph.D
• Format: Journal Article
• Language: English
• Published: United States Elsevier Inc 2008
• Subjects: Abortion, Habitual - genetics; Adult; Chromosome Inversion; Chromosomes, Human, Pair 7; Congenital hydronephrosis; cytogenetic diagnosis; Female; fetal urine; Heredity; Humans; Hydronephrosis - diagnosis; Hydronephrosis - diagnostic imaging; Hydronephrosis - genetics; Hydronephrosis - pathology; Hydronephrosis - urine; Infant, Newborn; Internal Medicine; Karyotyping; Lymphocytes - pathology; Male; Obstetrics and Gynecology; Pedigree; pericentric inversion 7; Pregnancy; Prenatal Diagnosis - methods; recurrent miscarriages; Ultrasonography; Urine - cytology; cytogenetic diagnosis; Congenital hydronephrosis; recurrent miscarriages; pericentric inversion 7; fetal urine
• DOI: 10.1016/j.fertnstert.2007.02.030
• ISSN: 0015-0282

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.