Growth of heterokaryotic monozygotic twins discordant for Ullrich-Turner syndrome during the first years of life

American Journal of Medical Genetics. Part a
T R RohrerH G Doerr

Abstract

The rare observation of different karyotypes in monozygotic (MZ) twins, i.e., heterokaryotic monozygosity, occurs due to chromosomal aberration in one of the twins after separation of the embryos. We report on the differences of heterokaryotic MZ Turkish twins who are discordant for Ullrich-Turner syndrome. Chromosomal analyses from peripheral lymphocytes revealed a 45,X/46,XX mosaicism in both twins. FISH analyses of buccal smears showed 99% of nuclei 45,X in twin A and 98% of nuclei 46,XX in twin B. These results are consistent with a non-mosaic 45,X and 46,XX karyotype, respectively. The girls showed a different growth pattern in the first years. As their genotype should be identical except for the number of X chromosomes, the difference in phenotype may be a pure result of loss of one X chromosome in the affected girl. Special interest is set on the spontaneous and growth hormone induced growth of the twins.

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Citations

Jun 11, 2009·European Journal of Human Genetics : EJHG·Jet BliekMarcel M A M Mannens
May 24, 2008·Twin Research and Human Genetics : the Official Journal of the International Society for Twin Studies·Barbara GentilinFaustina Lalatta
Mar 24, 2011·Twin Research and Human Genetics : the Official Journal of the International Society for Twin Studies·Yaniv Erlich
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Aug 25, 2010·American Journal of Medical Genetics. Part a·Hamid Reza RazzaghianJan P Dumanski
Feb 25, 2010·The Journal of Obstetrics and Gynaecology Research·Piyawadee WuttikonsammakitBoonchai Uerpairojkit
Jul 17, 2007·American Journal of Medical Genetics. Part a·D StemkensJ C Giltay
Jan 18, 2006·American Journal of Medical Genetics. Part a·Liesbeth LewiJan Deprest
Feb 14, 2006·American Journal of Medical Genetics. Part a·Sylvie BourthoumieuCatherine Yardin
Feb 3, 2007·Gynäkologisch-geburtshilfliche Rundschau·Sabine UhrigMichael R Speicher
Jun 26, 2020·Molecular Genetics & Genomic Medicine·Ken TakahashiHaruhiko Sago

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