tetrasomy 12p
MONDO:0011146Mondo
Findings
No curated finding names tetrasomy 12p yet. Everything below is reference data from Mondo, HPO and GenCC, not evidence about what affects it.
Definition
Pallister-Killian syndrome (PKS) is a rare multiple congenital anomaly/intellectual deficit syndrome caused by mosaic tissue-limited tetrasomy for chromosome 12p.
Definition from the Mondo Disease Ontology (MONDO:0011146), read 2026-09-29. CC BY 4.0.
- Inheritance
- Typified by somatic mosaicism
- Onset and course
- Congenital onset · Fetal onset
HPO, annotations 2026-09-02
Features
93 features
What the disease is reported to present with, and how often among people who have it — never how often a feature means the disease. HPO, annotations 2026-09-02.
- Apneic episodes in infancyHPOHP:0005949
- 1 of 1 reported patient
- Delayed ability to roll overHPOHP:0032989
- 1 of 1 reported patient
- Depressed nasal bridgeHPOHP:0005280
- 2 of 2 reported patients
- Edema of the dorsum of feetHPOHP:0012098
- 1 of 1 reported patient
- Global developmental delayHPOHP:0001263
- 1 of 1 reported patient
- High foreheadHPOHP:0000348
- 1 of 1 reported patient
- HypertelorismHPOHP:0000316
Show the remaining 81
- Periorbital fullnessHPOHP:0000629
- 1 of 1 reported patient
- Poor suckHPOHP:0002033
- 1 of 1 reported patient
- Sacral dimpleHPOHP:0000960
- 1 of 1 reported patient
- Short noseHPOHP:0003196
- 2 of 2 reported patients
- Frequent (30% to 79% of cases)
- Small handHPOHP:0200055
- 1 of 1 reported patient
- Sparse eyebrowHPOHP:0045075
- 3 of 3 reported patients
- Very frequent (80% to 99% of cases)
Where it sits
Other names
6 names
Resolves to: tetrasomy 12p
- Also called
- Isochromosome 12p mosaicismIsochromosome 12p syndromePallister Killian Mosaic SyndromePallister-Killian syndromePallister-Killian syndrome, Somatic mosaicismtetrasomy type 12p