Prenatal diagnosis of the Pallister-Killian mosaic aneuploidy syndrome by CVS
✍ Scribed by Bernert, Jürgen ;Bartels, Iris ;Gatz, Gudrun ;Hansmann, Ingo ;Heyat, Martina ;Niedmann, Paul D. ;Rehder, Helga ;Waldenmaier, Claus ;Zoll, Barbara
- Publisher
- John Wiley and Sons
- Year
- 1992
- Tongue
- English
- Weight
- 395 KB
- Volume
- 42
- Category
- Article
- ISSN
- 0148-7299
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Pallister-Killian syndrome (tetrasomy 12p) is a relatively rare aneuploidy syndrome characterized by the presence of mosaicism for an isochromosome 12p [i(12p)]. We report two new cases diagnosed following chorionic villus sampling and an abnormal ultrasound, respectively. Fluorescent in situ hybrid
pregnancies had cytogenetic evaluation performed and the karyotypes were 47,XX,+18 and 46,XX, respectively. Cytogenetic evaluation of her current pregnancy showed an apparent duplication of material in chromosome band 8p23.1 (46,XY,dup(8)(p23.1) (Fig. 1). The amniotic fluid AFP and AchE results were