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Tetrasomy 12p (Pallister-Killian syndrome): difficulties in prenatal diagnosis

✍ Scribed by J. Kunz; K. Schoner; W. Stein; H. Rehder; Barbara Fritz


Publisher
Springer
Year
2009
Tongue
English
Weight
318 KB
Volume
280
Category
Article
ISSN
0003-9128

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Pallister-Killian syndrome is a rare disorder comprising multiple congenital anomalies, streaks of hypo(hyper)pigmentation, seizures, profound mental retardation, and the presence of an extra metacentric chromosome i(12)(p10), usually limited to skin fibroblasts. The mechanism and parental origin of