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

Oleh:

Bogdanova, N. ; Siebers, U. ; Kelsch, R.

Jenis: Article from Journal - ilmiah internasional
Dalam koleksi: Human Reproduction vol. 25 no. 05 (May 2010), page 1339-1343.
Topik: chimerism; Down syndrome; freemartinism; Mullerian derivatives aplasia

Ketersediaan

Perpustakaan FK Nomor Panggil: H07.K.2010.02 Non-tandon: 1 (dapat dipinjam: 0) Tandon: tidak ada

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Isi artikel

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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