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  • Title: Inheritance of pericentric inversion in chromosome 7 through the three progenies and a newborn with congenital hydronephrosis diagnosed prenatally by fetal urine sampling.
    Author: Demirhan O, Ozcan K, Taştemir D, Demir C, Tunç E, Solğun HA, Güzel AI.
    Journal: Fertil Steril; 2008 Jan; 89(1):228.e1-6. PubMed ID: 17880960.
    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.
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