; J. Jakubowski, MD1
; W. Hawula, MD1
; M. Kozlowska, MD1
; U. Laskowska, MD1
B. Ramsauer, MD2
; H. Herbst, MD2
; C. Rickert, MD2
1. Polish Mothers Hospital, Poland;
2. Vivantes Clinic, Berlin, Germany.
The patient with unremarkable anamnesis, including family history, biological and occupational exposure underwent the first trimester screening for Down syndrome with normal results. First ultrasonographic suspicion of a fetal anomaly was made at 21st week. The ultrasound revealed hypoplasia of the lower cerebellar vermis, bilateral markedly hypoplastic kidneys, micrognathia, small stomach with polyhydramnios, borderline IUGR, and later rocker-bottom feet.
The result of interphase FISH test for the common aneuploidies was normal. The result of GTG-banded karyotype was abnormal, discovering a supernumerary marker chromosome, whose identification was possible only after extensive testing at 24/25 weeks of gestation.
The abnormalities were confirmed at autopsy, with additional diagnosis of annular pancreas. The mother's karyotype was 46,XX,t(11;22)(q23;q11.2). Emanuel syndrome may occur in the offspring as the result of meiosis in carriers of 11;22 (q23;q11.2) translocation, which by the way is the most common balanced chromosomal translocation in humans.
Fetal karyotype was 47,XX,der(22)t(11;22)(q23;q11.2)mat,+22. ish der(22)t(11;22)(q23;q11.2)(D22S75+;SHANK3-), which corresponds to Emanuel syndrome.
Images 1, 2: First trimester ultrasonographic screening - normal nuchal translucency and normal tricuspid flow were observed.