title: Inheritance of pericentric inversion in chromosome 7 through the three progenies and a newborn with congenital hydronephrosis diagnosed prenatally by fetal urine sampling.
abstract: 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.
  
  
  METHODS
  Case report.
  
  
  METHODS
  Medical Faculty of Cukurova University in Turkey.
  
  
  METHODS
  Referred by obstetrics and gynecology clinic.
  
  
  METHODS
  Fetal urine and lymphocytic karyotype.
  
  
  METHODS
  Chromosomal analysis from fetal urine and peripheral blood lymphocytes were performed according to standard cytogenetic methods.
  
  
  RESULTS
  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.
  
  
  CONCLUSIONS
  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.
authors: Department of Medical Biology and Genetics, Faculty of Medicine, Cukurova University, Adana, Turkey. osdemir@cu.edu.tr
authors: Osman
authors: O
authors: Demirhan
authors: Kenan
authors: K
authors: Ozcan
authors: Deniz
authors: D
authors: Taştemir
authors: Cansun
authors: C
authors: Demir
authors: Erdal
authors: E
authors: Tunç
authors: Hüseyin A
authors: HA
authors: Solğun
authors: Ali Irfan
authors: AI
authors: Güzel
mesh_terms: D000026:Abortion, Habitual / Q000235:genetics*; D000328:Adult; D007446:Chromosome Inversion; D002897:Chromosomes, Human, Pair 7; D005260:Female; D040941:Heredity; D006801:Humans; D006869:Hydronephrosis / Q000175:diagnosis* / Q000000981:diagnostic imaging / Q000235:genetics / Q000473:pathology / Q000652:urine; D007231:Infant, Newborn; D007621:Karyotyping; D008214:Lymphocytes / Q000473:pathology; D008297:Male; D010375:Pedigree; D011247:Pregnancy; D011296:Prenatal Diagnosis / Q000379:methods*; D014463:Ultrasonography; D014556:Urine / Q000166:cytology