| Blood chimerism in a girl with Down syndrome and possible freemartin effect leading to aplasia of the Müllerian derivatives. | |
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MedLine Citation:
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PMID: 20190264 Owner: NLM Status: MEDLINE |
Abstract/OtherAbstract:
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Cytogenetic and molecular genetic analysis in a case of sex-discordant dizygotic twins revealed blood chimerism in the girl (46,XY in blood and 47,XX, + 21 in fibroblasts) caused by feto-fetal transfusion from her healthy brother. The girl presented with Down syndrome, aplasia of the uterus and the Fallopian tubes and normal female external genitalia. We propose that the lack of Müllerian structures is caused by the effect of the Müllerian inhibiting substance transferred from the male to the female twin in early pregnancy. This disorder of sex development is known as freemartin phenomenon in female cattle from sex-discordant twin pairs. |
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Authors:
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N Bogdanova; U Siebers; R Kelsch; A Markoff; A Röpke; R Exeler; J Tsokas; P Wieacker |
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Publication Detail:
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Type: Case Reports; Journal Article; Research Support, Non-U.S. Gov't Date: 2010-02-26 |
Journal Detail:
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Title: Human reproduction (Oxford, England) Volume: 25 ISSN: 1460-2350 ISO Abbreviation: Hum. Reprod. Publication Date: 2010 May |
Date Detail:
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Created Date: 2010-04-14 Completed Date: 2010-07-29 Revised Date: - |
Medline Journal Info:
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Nlm Unique ID: 8701199 Medline TA: Hum Reprod Country: England |
Other Details:
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Languages: eng Pagination: 1339-43 Citation Subset: IM |
Affiliation:
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Institute of Human Genetics, ZMBE Westfalian Wilhelms-University of Münster and University Clinics Münster, Münster, Germany. |
Export Citation:
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| MeSH Terms | |
Descriptor/Qualifier:
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Adult Animals Cattle Child, Preschool Chimera / genetics* Chromosomes, Human, Y Down Syndrome / blood, genetics*, immunology Female Fetofetal Transfusion / blood, genetics Freemartinism / genetics* Haplotypes Histocompatibility Testing Humans In Situ Hybridization, Fluorescence Infant, Newborn Karyotyping Lymphocytes / ultrastructure Male Mullerian Ducts / abnormalities* Pedigree Pregnancy Twins, Dizygotic |
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