Pallister-Killian syndrome
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An infant with coarse facial features, sparse scalp hair, and profound hypotonia has a normal blood karyotype, but skin fibroblast analysis reveals mosaic tetrasomy 12p.
- Mosaic tetrasomy 12p: isochromosome 12p (i(12p))
- Tissue-limited mosaicism (often undetectable in blood)
- Coarse facies
- Sparse hair (temporal)
- Profound hypotonia
- Intellectual disability (moderate to severe)
- Pigmentary skin anomalies
- Diaphragmatic hernia
- Skin fibroblast karyotype or CMA (blood may be negative)
- No targeted therapy; multidisciplinary supportive care
- Surgical repair of diaphragmatic hernia and evaluation for associated cardiac and other anomalies in the newborn period
- Feeding support for hypotonia-related difficulties; neurology for seizure management
- Early intervention and developmental therapies, with hearing and vision assessment
- Diagnose Killian with Karyotype (on a skin biopsy, since blood is often falsely normal).
- sKin streaks in Killian: look for pigmentary mosaicism along Blaschko's lines.