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Anophthalmia and microphthalmia: A clinical case with a prenatal diagnosis

✍ Scribed by Silva, Fátima; Osório, Marta; Brito, Conceição; Sousa, Ana; Godinho, Cristina; Valente, Francisco; Gomes, Anabela

Book ID
122483325
Publisher
Elsevier
Year
2013
Tongue
Spanish
Weight
960 KB
Volume
24
Category
Article
ISSN
2173-4127

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We report the first case of hexasomy 12p mosaicism due to 2 copies of an apparent i(12p) [46,XW48,XX, + i(12p), + i(12p)l. In every cell that contained the i(12p),2 copies of the marker were found. The hexasomy was found i n amniocytes (16%) and skin fibroblasts (95%) but not in peripheral blood ly