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Tetrasomy 12p

MONDO:0011146

Pallister-Killian syndrome (PKS) is a rare multiple congenital anomaly/intellectual deficit syndrome caused by mosaic tissue-limited tetrasomy for chromosome 12p.

Also known as: Isochromosome 12p mosaicism, Isochromosome 12p syndrome, Pallister Killian Mosaic Syndrome, Pallister-Killian syndrome, Pallister-Killian syndrome, Somatic mosaicism, tetrasomy type 12p, Hexasomy 12P, Mosaic, Isochromosome 12P syndrome

2 clinical trials for this condition and its sub-types.

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Broader categories

Disease (618) Syndromic disease (24) Human disease (14) Chromosomal disorder (12) Disease of genetic or genomic mechanism (2) Overgrowth syndrome (1) Autosomal anomaly (0) Chromosome 12 disorder (0) Disease by body system or component (0) Disease by developmental or physiological process (0)
Not yet finished but already full! 1 Completed 1
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  • 10,000 genomes scoured for clues to rare brain diseases

    Knowledge-focused ENROLLING_BY_INVITATION

    This study will analyze DNA from 10,000 people with suspected rare genetic disorders affecting the brain. Researchers will map structural changes in chromosomes to find which genes cause disease. The goal is to improve genetic diagnosis and lay groundwork for future treatments.

    Sponsor: Karolinska Institutet • Aim: Knowledge-focused

    Last updated Jun 26, 2026 13:56 UTC

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