title: Double aneuploidy involving trisomy 7 with Potter sequence.
abstract: We report a prenatal case of double aneuploidy (consisting of chromosome 7 and X) with the features of Potter sequence. Of the stillborn fetus, skin fibroblast cultures were performed and fluorescence in situ hybridization (FISH) technique was also used for further investigation. On physical examination; the fetus was found to have malformed ears, micrognatia, hypertelorism, abnormal extremities, rocker-bottom feet and abnormal external genitalia and polycystic right kidney was seen after an extensive autopsy. As amniocentesis and cordocentesis materials revealed X chromosome mosaicism, trisomy 7 was detected in the skin fibroblast culture of the ex fetus and karyotype evaluated as composite; 46~47,X,+7,-X[cp18]. FISH results confirmed the double aneuploidy and also revealed XX and XXXX cell lines. Comparison with the previously reported cases of trisomy 7 with Potter syndrome suggests a possible link (if not coincidental) between trisomy 7 and Potter syndrome in our case. This is the first reported case of double aneuploidy involving trisomy 7 with the features of Potter syndrome.
authors.affiliation: Department of Obstetrics and Gynecology, Gazi University Faculty of Medicine, Besevler, Ankara 06500, Turkey.
authors.forename: Aydan
authors.initials: A
authors.lastname: Biri
authors.forename: Meral Yirmibes
authors.initials: MY
authors.lastname: Karaoğuz
authors.forename: Gönül Didem
authors.initials: GD
authors.lastname: Ince
authors.forename: Mehmet Ali
authors.initials: MA
authors.lastname: Ergün
authors.forename: Sevda
authors.initials: S
authors.lastname: Menevşe
authors.forename: Banu
authors.initials: B
authors.lastname: Bingöl
mesh_terms: D000015:Abnormalities, Multiple / Q000000981:diagnostic imaging; D002897:Chromosomes, Human, Pair 7; D041321:Chromosomes, Human, X; D005260:Female; D005317:Fetal Growth Retardation / Q000000981:diagnostic imaging*; D006801:Humans; D017404:In Situ Hybridization, Fluorescence; D007621:Karyotyping; D009030:Mosaicism; D016104:Oligohydramnios / Q000097:blood / Q000000981:diagnostic imaging*; D011247:Pregnancy; D011256:Pregnancy Outcome; D014314:Trisomy; D016216:Ultrasonography, Prenatal