Fetus with two identical reciprocal translocations: description of a rare complication of consanguinity

American Journal of Medical Genetics. Part a
Danielle MartinetSheila Unger

Abstract

We report on a 24-week fetus with multiple organ anomalies secondary to biparental inheritance of an apparently balanced t(17;20) reciprocal translocation. The pregnancy was terminated following the discovery by ultrasound of an abnormal heart and micrognathia. At autopsy, the following anomalies were found: Pierre-Robin sequence, hypoplasia of the right ventricle with muscular hypertrophy, and endocardial fibroelastosis, hypoplastic lungs, dysplastic left kidney, bilateral pelvicalyceal dilatation, central nervous system periventricular heterotopias and right sided club foot. Given the endocardial fibroelastosis and cleft palate, Eastman-Bixler syndrome (Facio-cardio-renal) is a possible diagnosis. The parents were first cousins and each had an identical t(17;20)(q21.1;p11.21) translocation. The fetal karyotype was 46,XX,t(17;20)(q21.1;p11.21)mat,t(17;20)(q21.1;p11.21)pat. While there are a few reports of consanguineous families where both the mother and father had the same reciprocal translocation and offspring with unbalanced karyotypes, we were unable to find any reports of a fetus/child with double identical reciprocal translocations. We propose that although the fetus had an apparently balanced karyotype, inheriting only ...Continue Reading

References

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Citations

Mar 5, 2009·European Journal of Human Genetics : EJHG·Anne-Sophie LebreCorinne Antignac
Nov 26, 2009·The Cleft Palate-craniofacial Journal : Official Publication of the American Cleft Palate-Craniofacial Association·Junichiro MachidaTakao Ono
Apr 4, 2012·European Journal of Medical Genetics·T M NeuhannN Di Donato
Oct 16, 2010·American Journal of Medical Genetics. Part a·Altug KoçMuhterem Bahce
Apr 14, 2007·American Journal of Medical Genetics. Part a·Maha ZakiJoseph G Gleeson

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