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. 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.

journal_name

Fertil Steril

journal_title

Fertility and sterility

authors

Demirhan O,Ozcan K,Taştemir D,Demir C,Tunç E,Solğun HA,Güzel AI

doi

10.1016/j.fertnstert.2007.02.030

subject

Has Abstract

pub_date

2008-01-01 00:00:00

pages

228.e1-6

issue

1

eissn

0015-0282

issn

1556-5653

pii

S0015-0282(07)00410-4

journal_volume

89

pub_type

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