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Trisomy 13 mosaicism at prenatal diagnosis: dilemmas in interpretation

✍ Scribed by Martin B. Delatycki; Mark D. Pertile; R. J. McKinlay Gardner

Publisher
John Wiley and Sons
Year
1998
Tongue
English
Weight
39 KB
Volume
18
Category
Article
ISSN
0197-3851

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✦ Synopsis

We describe six cases of trisomy 13 mosaicism detected at prenatal diagnosis. Most level I and level II trisomy 13 mosaicism detected at prenatal diagnosis is pseudomosaicism or confined placental mosaicism. Rarely, low-level mosaicism at chorionic villus sampling or amniocentesis reflects a true fetal mosaicism. In this case, a normal phenotype is a possible, but not a certain, outcome. Genetic counselling is not straightforward.

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