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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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  • Could a simple questionnaire unlock the secrets of Kids' eating disorders?

    Knowledge-focused Completed

    This study tested a new parent questionnaire called ORALQUEST to assess feeding and eating disorders in children aged 9 months to 6 years. Researchers included 338 children with chronic conditions like heart defects or autism, as well as those with picky eating. The goal was to s…

    Sponsor: Assistance Publique - Hôpitaux de Paris • Aim: Knowledge-focused

    Last updated Jun 27, 2026 08:04 UTC

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