Blood chimerism in a girl with Down syndrome and possible freemartin effect leading to aplasia of the Mullerian derivatives | Zendy

Nadia Bogdanova | Zendy; U. Siebers | Zendy; Reinhard Kelsch | Zendy; Arseni Markoff | Zendy; Albrecht Röpke | Zendy; Rita Exeler | Zendy; J. Tsokas | Zendy; Peter Wieacker | Zendy

Open Access

Blood chimerism in a girl with Down syndrome and possible freemartin effect leading to aplasia of the Mullerian derivatives

Author(s) -

Nadia Bogdanova,

U. Siebers,

Reinhard Kelsch,

Arseni Markoff,

Albrecht Röpke,

Rita Exeler,

J. Tsokas,

Peter Wieacker

Publication year - 2010

Publication title -

human reproduction

Language(s) - English

Resource type - Journals

SCImago Journal Rank - 2.446

H-Index - 226

eISSN - 1460-2350

pISSN - 0268-1161

DOI - 10.1093/humrep/deq048

Subject(s) - girl , biology , aplasia , pregnancy , medicine , endocrinology , genetics

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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