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Bilateral retinoblastoma associated with 13q− mosaicism: Possible manifestation of a germinal mutation

✍ Scribed by Maria Cecília Menks Ribeiro; Joyce Anderson Duffles Andrade; Clélia Maria Erwenne; Decio Brunoni


Book ID
119104000
Publisher
Elsevier Science
Year
1988
Tongue
English
Weight
354 KB
Volume
32
Category
Article
ISSN
0165-4608

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A female fetus with bilateral renal agenesis and fetal ascites was found to have partial trisomy 13 (pter-q12.3) and partial trisomy 16 (p13.2-pter), 47,XX,+der(13)t(13;16)(q12.3; p13.2)mat. The chromosomal aberration was due to a 3:1 segregation with tertiary trisomy transmitted from a maternal rec