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.


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.
Demirhan
Osman
O
Department of Medical Biology and Genetics, Faculty of Medicine, Cukurova University, Adana, Turkey. osdemir@cu.edu.tr
Ozcan
Kenan
K
Taştemir
Deniz
D
Demir
Cansun
C
Tunç
Erdal
E
Solğun
Hüseyin A
HA
Güzel
Ali Irfan
AI
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