Prenatal detection of double aneuploidy trisomy 10/monosomy X in a liveborn twin with exclusively monosomy X in blood

Clinical Genetics
G MielkeU Trautmann

Abstract

Both double aneuploidy and trisomy 10 are rare chromosome findings. All five published cases of trisomy 10 in liveborns were found to be mosaic with an euploid cell line. In a liveborn female twin, double aneuploidy mosaicism 47,XX, + 10/45,X was detected prenatally by amniocentesis performed because of severe intrauterine growth retardation and malformations. Chromosome analysis from neonatal lymphocyte cultures revealed exclusively the 45,X cell line. Double aneuploidy mosaicism trisomy 10/monosomy X was confirmed from skin fibroblasts. The child died at the age of 7 weeks. This is the first reported case of double aneuploidy involving trisomy 10, and the first case of trisomy 10 without a normal cell line in a liveborn. Prenatal diagnosis of trisomy 10 in a liveborn has not been published so far. The case illustrates that in specific cases amniotic fluid cells may reflect the karyotype of the fetus better than blood.

References

Sep 1, 1992·American Journal of Medical Genetics·B SchofieldV B Penchaszadeh
Apr 1, 1989·American Journal of Medical Genetics·M G WilsonF M Kaplan
Jul 1, 1985·Prenatal Diagnosis·M M McCorquodaleJ Furlong
Jan 1, 1985·Clinical Genetics·H F de FranceS C Schaminée-Main
Dec 1, 1969·Journal of Medical Genetics·M HigurashiS Kamoshita
Jun 1, 1994·Prenatal Diagnosis·S A FarrellY S Fan

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Citations

Aug 23, 2005·American Journal of Medical Genetics. Part a·Johanne M D HahnemannMerete Bugge
Aug 11, 2005·American Journal of Medical Genetics. Part a·Renée C NiessenAnthonie J van Essen
Nov 19, 2019·The Journal of Maternal-fetal & Neonatal Medicine : the Official Journal of the European Association of Perinatal Medicine, the Federation of Asia and Oceania Perinatal Societies, the International Society of Perinatal Obstetricians·Guannan HeNa Xi
Jan 31, 2012·Molecular Cytogenetics·Karin Huijsdens-van AmsterdamAlida C Knegt

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