Tetrasomy 12p (Pallister-Killian syndrome).
Schinzel
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A
Institut für Medizinische Genetik der Universität Zürich, Switzerland.
D000015:Abnormalities, Multiple / Q000235:genetics*; D002869:Chromosome Aberrations; D025063:Chromosome Disorders; D002881:Chromosomes, Human, Pair 12; D005149:Facial Expression; D005260:Female; D005347:Fibroblasts / Q000473:pathology; D006801:Humans; D007231:Infant, Newborn; D008607:Intellectual Disability; D008214:Lymphocytes / Q000473:pathology; D010859:Pigmentation Disorders; D012640:Seizures; D013577:Syndrome