Long-term follow-up and analysis of monozygotic twins concordant for 45,X/46,XY peripheral blood karyotype but discordant for phenotypic sex

American Journal of Medical Genetics. Part a
S P ThoP G McDonough

Abstract

We report on the follow-up of a set of monozygotic (MZ) twins who were concordant for peripheral blood karyotype 45,X/46,XY but discordant for phenotypic sex. One twin is a phenotypically normal male and the other twin has asymetrical gonadal dysgenesis. The female twin has the mos45,X/46,XY karyotype in all four tissues: left testis, right streak, vas deferens, and clitoral skin. The normal male twin has the normal 46,XY karyotype in all three tissues tested: foreskin, scrotal skin, and testis. Follow-up of the twins at age 21, revealed persistence of mos45,X/46,XY karyotype in peripheral blood into adult life. However, the male grew up with normal male stature, reaching an adult height of 182 cm. The female twin received low dose estrogen replacement with complete breast development at age 14 years. She reached an adult height of 156 cm. At 21 years of age the male twin had normal testicular endocrine function, but severe oligospermia. The long-term follow-up of this set of MZ twins indicate that the male twin has the mosaicism confined to peripheral blood and has the normal 46,XY male constitution. This was further confirmed by his normal male stature and normal testicular endocrine function. The 45X cell line is likely due ...Continue Reading

References

Sep 1, 1979·Journal of Reproduction and Fertility·H O DunnW H Stone
Feb 1, 1976·Journal of Medical Genetics·R SchmidtF H Allen
Mar 1, 1975·Journal of Medical Genetics·L KarpP J Fialkow
Jan 1, 1992·Acta geneticae medicae et gemellologiae·K KurosawaY Kuroki
Jan 1, 1992·Urologia Internationalis·M Gassó-MatosesA Mira-Llinares
Nov 1, 1991·American Journal of Medical Genetics·A FujimotoK Battersby
Dec 1, 1990·American Journal of Medical Genetics·E J PerlmanG M Hutchins
May 1, 1990·Clinical Genetics·M MićićV Diklić
Dec 1, 1966·The Journal of Clinical Endocrinology and Metabolism·A RussellJ M Abraham
Jun 1, 1966·Journal of Medical Genetics·J H EdwardsJ Kahn
Oct 15, 1994·American Journal of Medical Genetics·Y YokotaY Nakagome
Jan 23, 1996·Proceedings of the National Academy of Sciences of the United States of America·D W BianchiM A DeMaria
Jan 22, 1996·American Journal of Medical Genetics·B A van DijkA J de Man
Jul 7, 1999·The Journal of Clinical Investigation·S MaloneyJ L Nelson
Dec 13, 2000·Prenatal Diagnosis·O SchmidE Beinder
Dec 20, 2000·Fertility and Sterility·S G SomkutiA M DiGeorge
Jan 5, 2001·Human Reproduction·R SudikP F Wieacker
Apr 16, 2005·American Journal of Medical Genetics. Part a·Sylvie BourthoumieuFrançoise Esclaire
Apr 28, 2006·The New England Journal of Medicine·Edward A Copelan

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Citations

Apr 14, 2009·American Journal of Medical Genetics. Part C, Seminars in Medical Genetics·Geoffrey Machin
May 15, 2010·American Journal of Medical Genetics. Part B, Neuropsychiatric Genetics : the Official Publication of the International Society of Psychiatric Genetics·Petra J G ZwijnenburgDorret I Boomsma
Feb 25, 2010·The Journal of Obstetrics and Gynaecology Research·Piyawadee WuttikonsammakitBoonchai Uerpairojkit
Feb 25, 2015·American Journal of Medical Genetics. Part a·David Rodriguez-BuriticaNathaniel H Robin
May 5, 2020·Pediatric and Developmental Pathology : the Official Journal of the Society for Pediatric Pathology and the Paediatric Pathology Society·Arati A InamdarWendy Shertz
Mar 17, 2021·European Journal of Obstetrics, Gynecology, and Reproductive Biology·Yan-Dong Yang, Dong-Zhi Li

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