Genetics · Genetics / Chromosomal disorders
Pallister–Killian syndrome
also: Tetrasomy 12p mosaicism
Tissue-limited tetrasomy 12p with coarse facies and hypopigmentation.
- Specialty
- Genetics
- Subspecialty
- Genetics / Chromosomal disorders
- Sex & age distribution
- Male: affected; Female: affected, equal; Children: yes, congenital
- Gene(s) involved
- None recorded
- Alternative names & eponyms
- Tetrasomy 12p mosaicism
Etiology & mechanism
Mosaic isochromosome 12p.
Gene(s) involved (0)
No gene recorded for this syndrome.
Symptoms & signs (6)
In plain terms, someone with Pallister–Killian syndrome may experience the following — click any to explore related syndromes:
Same gene(s)
Other syndromes that involve one of this syndrome's genes.
Overlapping symptoms
Other syndromes that share symptoms with this one.
Drag nodes, scroll to zoom, click a node to open that syndrome.
Shares symptoms with
3 shared
Nicolaides–Baraitser syndrome
coarse facies, seizures, sparse hair
2 shared
Borjeson–Forssman–Lehmann syndrome
coarse facies, seizures
2 shared
Cardiofaciocutaneous syndrome
seizures, sparse hair
2 shared
Miller–Dieker syndrome
seizures, severe intellectual disability
2 shared
Pitt–Hopkins syndrome
seizures, severe intellectual disability
1 shared
Action myoclonus–renal failure syndrome
seizures
1 shared
Alcohol withdrawal syndrome
seizures
1 shared
Amniotic fluid embolism syndrome
seizures
1 shared
Angelman syndrome
seizures
1 shared
Barakat syndrome
seizures
Shares genes with
None.
Loading…
Loading…