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P44.09: Prenatal diagnosis and neonatal management of Pallister-Killian-Sydrome: a case report

✍ Scribed by J. E. Baumueller; S. Spahn; A. Josef; F. Bahlmann


Book ID
112226741
Publisher
John Wiley and Sons
Year
2007
Tongue
English
Weight
38 KB
Volume
30
Category
Article
ISSN
0960-7692

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THE USE OF INTERPHASE FISH FOR PRENATAL
✍ PATRICIA A. MOWERY-RUSHTON; MONA P. STADLER; SALLY J. KOCHMAR; ELIZABETH McPHERS πŸ“‚ Article πŸ“… 1997 πŸ› John Wiley and Sons 🌐 English βš– 221 KB πŸ‘ 2 views

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