PMID: 6575956Jan 1, 1983Paper

46,XX/46,XY chimerism in a phenotypically normal man

Human Genetics
E SchoenleE R Froesch

Abstract

Some twenty cases of dispermic chimeras with the karyotype 46,XX/46,XY, discovered because of gonadal dysplasias or a true hermaphroditism, have been reported. This is a report of a phenotypically normal man with 46,XX/46,XY chimerism in whom a prepubertal finding of positive X-chromatin was interpreted as Klinefelter syndrome. The diagnosis was revised 11 years later when the family doctor, who doubted the earlier diagnosis because of the patient's normal-sized testes, sent him to an outpatient clinic. The young man was 23 years old, athletic (74kg, 180cm), with normal body proportions, normal sexual hair distribution, normal libido and potency, normal endocrine parameters, and a normal spermiogram. The karyotype revealed an XX/XY mosaic in a proportion of 1:2. An identical set of maternal markers (Q- and C-banding) was present in male and female cells. Differences were found with respect to two paternal markers. Furthermore, blood, serum, and red cell enzyme groups in five systems showed two phenotypes, again with duality of paternal origin. It is concluded that a positive X-chromatin in prepuperty, especially in the absence of supporting clinical features, must be followed by a karyotype study.

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Citations

Jan 16, 1998·The New England Journal of Medicine·L StrainD T Bonthron
May 17, 2002·The New England Journal of Medicine·Neng YuEdmond J Yunis
Aug 10, 2000·American Journal of Respiratory and Critical Care Medicine·M C AubryH D Tazelaar
Jun 4, 2013·Anales de pediatría : publicación oficial de la Asociación Española de Pediatría (A.E.P.)·G Á Martos-MorenoJ Argente
Nov 21, 2012·Transfusion and Apheresis Science : Official Journal of the World Apheresis Association : Official Journal of the European Society for Haemapheresis·Xiaozhen HongLixing Yan
Oct 10, 2006·Clinical Genetics·V MalanC Turleau
Jan 22, 2009·Annals of the New York Academy of Sciences·M RamsayT de Ravel
Aug 31, 2010·American Journal of Medical Genetics. Part a·Johanna WinbergAnn Nordgren
Sep 13, 2011·American Journal of Medical Genetics. Part a·Paul A JamesFiona Norris
Jul 1, 1988·Prenatal Diagnosis·A S FreibergJ Mann
Apr 22, 2008·Transfusion·Nicole L DraperKaaron Benson
Mar 1, 1994·American Journal of Medical Genetics·T C Falik-BorensteinR R Schreck
Oct 5, 2010·The Korean journal of laboratory medicine·Ja-Hyun JangSun-Hee Kim
Apr 7, 2009·Journal of Pediatric Endocrinology & Metabolism : JPEM·Mathijs BinkhorstBarto J Otten
Mar 23, 2019·BMJ Case Reports·Viraraghavan Vadakkencherry RamaswamySanghamitra Gummadapu
May 2, 2018·Journal of Assisted Reproduction and Genetics·R J LaursenE M Vestergaard
May 4, 2020·International Journal of Legal Medicine·Sohee ChoSoong Deok Lee
Dec 12, 2018·Andrologia·Eun Jung ChoiYoung Jin Lee

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