Prenatal diagnosis of female monozygotic twins discordant for Turner syndrome: implications for prenatal genetic counselling

Prenatal Diagnosis
B GilbertD Lacombe

Abstract

We describe a set of monozygotic (MZ) female twins, one of whom presented with a typical Turner syndrome (TS) phenotype and the other a normal female phenotype. Prenatal fetal ultrasonographic examination showed a monochorial diamniotic pregnancy with a hygroma colli and growth delay in Twin A and no anomalies in Twin B. Karyotypic analysis performed on fetal blood samples demonstrated a 46,XX/45,X (23/2) mosaicism in Twin A and a normal 46,XX chromosome constitution in Twin B. At birth, Twin A presented with a typical TS and Twin B had a normal female phenotype. Postnatal cytogenetic investigation of blood lymphocytes showed the same 46,XX/45,X mosaicism in both twins: 46,XX/45,X (40/7) in Twin A and 46,XX/45,X (40/5) in Twin B. Further investigations at the age of 10 months showed in Twin A a 46,XX/45,X (98/2) mosaicism in lymphocytes and 100% of 45,X (50 analysed cells) in fibroblasts, and in Twin B a normal 46,XX (100 analysed cells) chromosome constitution in lymphocytes but a mild 46,XX/45,X (78/2) mosaicism in fibroblasts. Monozygosity was confirmed by molecular analysis. To our knowledge, this is the first report of prenatal diagnosis of MZ female twins discordant for TS. Review of reported sets of MZ female twins (eigh...Continue Reading

References

Oct 1, 1991·American Journal of Medical Genetics·P B KaplowitzJ E Spence
Nov 1, 1990·Obstetrics and Gynecology·W J WatsonA S Aylsworth
Jul 1, 1972·Acta paediatrica Scandinavica·A M Potter, L S Taitz
Apr 1, 1969·The Journal of Clinical Endocrinology and Metabolism·G T RossM B Lipsett
Feb 1, 1982·American Journal of Medical Genetics·J G RogersH Gold
Aug 1, 1983·American Journal of Medical Genetics·S A Al-AwadiA H Bahig
Dec 1, 1982·American Journal of Medical Genetics·E WeissI M Rosenthal
Jan 1, 1980·Acta Obstetricia Et Gynecologica Scandinavica·I K PedersenJ Starup
Mar 1, 1993·Clinical Genetics·H TsukamotoS Okada
Sep 1, 1995·Journal of Medical Genetics·J GoodshipJ Burn
Jan 22, 1996·American Journal of Medical Genetics·G A Machin
Jun 1, 1996·Current Opinion in Genetics & Development·J G Hall
Mar 12, 1999·Prenatal Diagnosis·A NieuwintK Madan
Dec 13, 2000·Prenatal Diagnosis·O SchmidE Beinder
Feb 15, 2001·Cytogenetics and Cell Genetics·S S WachtelJ S Schinfeld
Aug 11, 2001·Lancet·M B Ranke, P Saenger

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Citations

Oct 26, 2002·Prenatal Diagnosis
Aug 12, 2010·Journal of Assisted Reproduction and Genetics·Gabriela TauwinklovaVladimira Vranova
May 24, 2008·Twin Research and Human Genetics : the Official Journal of the International Society for Twin Studies·Barbara GentilinFaustina Lalatta
Oct 7, 2009·Twin Research and Human Genetics : the Official Journal of the International Society for Twin Studies·Jane W KimaniJeffrey C Murray
Dec 1, 2009·Twin Research and Human Genetics : the Official Journal of the International Society for Twin Studies·Ingeborg H LinskensJohn M van Vugt
Oct 23, 2014·Human Reproduction·G TachonV Gatinois
Feb 10, 2010·Journal de gynécologie, obstétrique et biologie de la reproduction·D GallotD Lémery
Feb 10, 2010·Journal de gynécologie, obstétrique et biologie de la reproduction·R Favre
Mar 5, 2016·Birth Defects Research. Part A, Clinical and Molecular Teratology·Anne Mayeur Le BrasSophie Brisset
Apr 21, 2009·La Presse médicale·Maxime BarréNorbert Winer
Apr 14, 2009·American Journal of Medical Genetics. Part C, Seminars in Medical Genetics·Geoffrey Machin
Mar 4, 2011·Ultrasound in Obstetrics & Gynecology : the Official Journal of the International Society of Ultrasound in Obstetrics and Gynecology·A ReussB Eiben
Feb 25, 2010·The Journal of Obstetrics and Gynaecology Research·Piyawadee WuttikonsammakitBoonchai Uerpairojkit
Dec 2, 2017·Twin Research and Human Genetics : the Official Journal of the International Society for Twin Studies·Yuejuan XuRang Xu
Mar 9, 2007·Prenatal Diagnosis·M GrynbergF Carré-Pigeon
Apr 25, 2007·Prenatal Diagnosis·F J Fernández-MartínezE Barreiro
Sep 20, 2005·Prenatal Diagnosis·M A RusticoU Nicolini
Feb 14, 2006·American Journal of Medical Genetics. Part a·Sylvie BourthoumieuCatherine Yardin
Apr 16, 2005·American Journal of Medical Genetics. Part a·Sylvie BourthoumieuFrançoise Esclaire
Dec 19, 2019·Frontiers in Genetics·Ronaldo da Silva Francisco JuniorEnrique Medina-Acosta
Sep 11, 2020·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·Xiaomei ShiJing Wu
Mar 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·Céline HomatterCoralie Dumont
Mar 17, 2021·European Journal of Obstetrics, Gynecology, and Reproductive Biology·Yan-Dong Yang, Dong-Zhi Li

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