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


Schoenle, E; Schmid, Werner; Schinzel, Albert; Mahler, Michael; Ritter, M; Schenker, T; Metaxas, M; Froesch, P; Froesch, E R (1983). 46,XX/46,XY chimerism in a phenotypically normal man. Human Genetics, 64(1):86-89.

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.

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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Additional indexing

Item Type:Journal Article, refereed, original work
Communities & Collections:04 Faculty of Medicine > Institute of Medical Genetics
04 Faculty of Medicine > University Hospital Zurich > Institute of Pathology and Molecular Pathology
Dewey Decimal Classification:570 Life sciences; biology
610 Medicine & health
Scopus Subject Areas:Life Sciences > Genetics
Health Sciences > Genetics (clinical)
Uncontrolled Keywords:Genetics (clinical), Genetics, Family Doctor, Klinefelter Syndrome, Body Proportion, Endocrine Parameter, Female Cell
Language:English
Date:1 July 1983
Deposited On:27 Jan 2023 12:17
Last Modified:28 Apr 2024 01:47
Publisher:Springer
ISSN:0340-6717
OA Status:Closed
Publisher DOI:https://doi.org/10.1007/bf00289485
PubMed ID:6575956
Other Identification Number:Corpus ID: 25946104