Ring chromosome 18 in a fetus with only facial anomalies

American Journal of Medical Genetics
F J LosD Van Opstal

Abstract

We report on a prenatally detected case of ring chromosome 18 [46,XX,r(18)] in amniotic fluid cells of a fetus with an abnormal facial profile on ultrasound as the only malformation. The chromosome 18 origin of the ring chromosome, of a supernumerary marker chromosome in some cells, and of micronuclei was demonstrated by fluorescent in situ hybridization with a whole chromosome 18 paint (Cambio) and 18 centromere probe L1.84. DNA investigations showed deletions of 18p as well as 18q material of r(18), which turned out to be of paternal origin. Autopsy of the fetus after termination of pregnancy at 20 weeks of gestation showed no additional malformations, in agreement with the previous ultrasound findings.

References

Nov 1, 1992·Prenatal Diagnosis·B EibenH Hauss
Jun 1, 1986·Journal of Medical Genetics·S D Sutton, M A Ridler
Dec 1, 1984·Clinical Genetics·U Froster-IskeniusE Schwinger
Dec 1, 1994·Journal of Ultrasound in Medicine : Official Journal of the American Institute of Ultrasound in Medicine·T TroutJ P McGahan
Aug 15, 1993·American Journal of Medical Genetics·R PetrellaK Hirschhorn
Apr 1, 1993·Early Human Development·H M ChambersE A Haan
Jan 1, 1994·Ultrasound in Obstetrics & Gynecology : the Official Journal of the International Society of Ultrasound in Obstetrics and Gynecology·R J Snijders, K H Nicolaides

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Citations

Jun 26, 2001·American Journal of Medical Genetics·P StankiewiczJ Limon
Aug 2, 2007·European Journal of Pediatrics·Altuğ KoçE Ferda Perçin

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