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A fetus with an X;1 balanced reciprocal translocation and eye disease.

A 19 week female fetus is described with a de novo X;1 reciprocal balanced translocation, with the breakpoint on the X chromosome at Xp11.4, and eye pathology consistent with the early stages of Norrie disease. The fetus seems to be an example of a female manifesting an X linked recessive disease, a...

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Hlavní autoři: Seller, M J, Pal, K, Horsley, S, Davies, A F, Berry, A C, Meredith, R, McCartney, A C
Médium: Artigo
Jazyk:Inglês
Vydáno: 1995
Témata:
On-line přístup:https://ncbi.nlm.nih.gov/pmc/articles/PMC1050552/
https://ncbi.nlm.nih.gov/pubmed/7562972
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