Pallister-Killian mosaic syndrome (PKS), also termed Pallister-Killian syndrome, Pallister mosaic aneuploidy, tetrasomy
12p mosaicism, isochromosome 12p syndrome, or Teschler-Nicola syndrome is a rare dysmorphic disorder caused by mosaic tetrasomy
of the short arm of chromosome 12 (12p).
We describe a patient diagnosed as AML-M5, with myeloid sarcoma and tetrasomy
8 as the sole chromosomal abnormality.
A wide range of partial aneuploidy, including dup (3q), dup (11p) , inv (11), dup (1q), del (1q), dup (4q), dup (5p), dup (6q), del (9p), dup (15q) , dup (17q), dup (7q)/del (21q) , dup (3q)/del (9q) , Pallister-Killian syndrome with mosaic tetrasomy
12p and Miller-Dieker lissencephaly syndrome with deletion of 17p13.3, and uniparental disomy (UPD) such as UPD11 and UPD14, is also reported to be associated with omphalocele [4, 10, 11, 14, 15].
18p (OMIM 614290) is a very rare chromosomal abnormality, with a prevalence of 1/140,000–180,000 live births.[sup] Although it has been known in some countries, it has been seldom reported in China.
The JAK2 V617F and CALR exon nine insertion or deletion mutations were not detected but cytogenetic analysis revealed a karyotype of 46,XX,t(9;22)(q42;q11) in 16 metaphases, trisomy 8 in a further two Ph+ metaphases, and tetrasomy
8 in one further Ph+ metaphase.
Gabrielli et al., "Pallister-Killian syndrome: cytogenetics and molecular investigations of mosaic tetrasomy
12p in prenatal chorionic villus and in amniocytes.
The polysomy criterion of 4 cells includes the tetrasomy
class, defined by cells with 4 copies of each FISH probe signal.
Among the detected aneuploidy, the trisomy and tetrasomy
of the X chromosome were dominant (Figure 3).
The patient's medical history was significant for tetrasomy
15, bilateral congenital sensorineural hearing loss, and recurrent acute otitis media.
reported a highly complex aneuploid pattern by SNP array, including whole chromosome trisomy 5, 7, 8, 11, 15, 16, 20, and 22; tetrasomy
4 and 18; and monosomy 1, 2, 3, 9, 10, 13, 14 .
Chromosome 9: Numerical aberrations of chromosome 9 were detected in 13/50 (26%) patients: 9 had trisomy, 2 had tetrasomy
, 1 had tetrasomy
plus trisomy, 1 had monosomy.
In addition, seven of the 20 cells contained an additional isochromosome 8q resulting in an 8q tetrasomy
. The trisomy 21 is a constitutional abnormality because the patient was already known to have Down syndrome.