Tetrasomy 12p

General Information (adopted from Orphanet):

Synonyms, Signs: PKS
Pallister-Killian syndrome
Isochromosome 12p syndrome
ISOCHROMOSOME 12p SYNDROME HEXASOMY 12p, MOSAIC, INCLUDED
TETRASOMY 12p, MOSAIC
Isochromosome 12p mosaicism
Number of Symptoms 118
OrphanetNr: 884
OMIM Id: 601803
ICD-10: Q99.8
UMLs:
MeSH:
MedDRA:
Snomed: 9527009

Prevalence, inheritance and age of onset:

Prevalence: No data available.
Inheritance: Unknown
Not applicable
[Orphanet]
Age of onset: Antenatal
Neonatal
[Orphanet]

Disease classification (adopted from Orphanet):

Parent Diseases: Chromosomal anomaly with epilepsy as a major feature
 -Rare neurologic disease
Chromosomal disease with overgrowth
 -Rare developmental defect during embryogenesis
 -Rare genetic disease
Partial trisomy/tetrasomy of the short arm of chromosome 12
 -Rare developmental defect during embryogenesis
 -Rare genetic disease
Syndromic anorectal malformation
 -Rare abdominal surgical disease
 -Rare developmental defect during embryogenesis
 -Rare genetic disease
Syndromic diaphragmatic or abdominal wall malformation
 -Rare abdominal surgical disease
 -Rare developmental defect during embryogenesis
Syndromic diaphragmatic or thoracic malformation
 -Rare surgical thoracic disease

Symptom Information: Sort by abundance 

1
 (HPO:0000113) Polycystic kidney dysplasia 75 / 7739
2
 (HPO:0000151) Aplasia of the uterus 12 / 7739
3
 (HPO:0000800) Cystic renal dysplasia 31 / 7739
4
 (HPO:0000028) Cryptorchidism 347 / 7739
5
 (HPO:0000107) Renal cyst 126 / 7739
6
 (HPO:0000047) Hypospadias 250 / 7739
7
 (HPO:0000110) Renal dysplasia 44 / 7739
8
 (HPO:0000059) Hypoplastic labia majora 22 / 7739
9
 (HPO:0000470) Short neck Very frequent [Orphanet] 345 / 7739
10
 (HPO:0000159) Abnormality of the lip Very frequent [Orphanet] 33 / 7739
11
 (HPO:0002007) Frontal bossing Frequent [Orphanet] 366 / 7739
12
 (HPO:0100840) Aplasia/Hypoplasia of the eyebrow Very frequent [Orphanet] 117 / 7739
13
 (HPO:0000343) Long philtrum Very frequent [Orphanet] 262 / 7739
14
 (HPO:0004768) Sparse anterior scalp hair 1 / 7739
15
 (HPO:0000684) Delayed eruption of teeth Very frequent [Orphanet] 117 / 7739
16
 (HPO:0000193) Bifid uvula 66 / 7739
17
 (HPO:0011220) Prominent forehead 137 / 7739
18
 (HPO:0000175) Cleft palate 349 / 7739
19
 (HPO:0000653) Sparse eyelashes 58 / 7739
20
 (HPO:0000232) Everted lower lip vermilion Very frequent [Orphanet] 90 / 7739
21
 (HPO:0000506) Telecanthus Frequent [Orphanet] 156 / 7739
22
 (HPO:0005484) Postnatal microcephaly 32 / 7739
23
 (HPO:0000431) Wide nasal bridge 290 / 7739
24
 (HPO:0000463) Anteverted nares Frequent [Orphanet] 305 / 7739
25
 (HPO:0000520) Proptosis 192 / 7739
26
 (HPO:0000256) Macrocephaly 298 / 7739
27
 (HPO:0000286) Epicanthus 371 / 7739
28
 (HPO:0000293) Full cheeks 85 / 7739
29
 (HPO:0002714) Downturned corners of mouth Very frequent [Orphanet] 98 / 7739
30
 (HPO:0000158) Macroglossia 119 / 7739
31
 (HPO:0000280) Coarse facial features Frequent [Orphanet] 189 / 7739
32
 (HPO:0000582) Upslanted palpebral fissure Frequent [Orphanet] 185 / 7739
33
 (HPO:0005280) Depressed nasal bridge 381 / 7739
34
 (HPO:0100736) Abnormality of the soft palate Occasional [Orphanet] 6 / 7739
35
 (HPO:0000316) Hypertelorism Frequent [Orphanet] 644 / 7739
36
 (HPO:0003196) Short nose Frequent [Orphanet] 264 / 7739
37
 (HPO:0000219) Thin upper lip vermilion 112 / 7739
38
 (HPO:0000233) Thin vermilion border Very frequent [Orphanet] 124 / 7739
39
 (HPO:0000465) Webbed neck 81 / 7739
40
 (HPO:0000535) Sparse and thin eyebrow 76 / 7739
41
 (HPO:0000347) Micrognathia 426 / 7739
42
 (HPO:0000518) Cataract 454 / 7739
43
 (HPO:0000508) Ptosis Very frequent [Orphanet] 459 / 7739
44
 (HPO:0000486) Strabismus Occasional [Orphanet] 576 / 7739
45
 (HPO:0000402) Stenosis of the external auditory canal 22 / 7739
46
 (HPO:0000365) Hearing impairment 539 / 7739
47
 (HPO:0000400) Macrotia 108 / 7739
48
 (HPO:0001315) Reduced tendon reflexes Very frequent [Orphanet] 160 / 7739
49
 (HPO:0001276) Hypertonia 317 / 7739
50
 (HPO:0002187) Intellectual disability, profound 44 / 7739
51
 (HPO:0001250) Seizures 1245 / 7739
52
 (HPO:0002558) Supernumerary nipple 40 / 7739
53
 (HPO:0002750) Delayed skeletal maturation Very frequent [Orphanet] 250 / 7739
54
 (HPO:0001769) Broad foot 31 / 7739
55
 (HPO:0100259) Postaxial polydactyly 85 / 7739
56
 (HPO:0001382) Joint hypermobility Very frequent [Orphanet] 231 / 7739
57
 (HPO:0001371) Flexion contracture 220 / 7739
58
 (HPO:0001830) Postaxial foot polydactyly 37 / 7739
59
 (HPO:0009803) Short phalanx of finger 79 / 7739
60
 (HPO:0001169) Broad palm 43 / 7739
61
 (HPO:0004209) Clinodactyly of the 5th finger 288 / 7739
62
 (HPO:0008905) Rhizomelia 85 / 7739
63
 (HPO:0000954) Single transverse palmar crease 162 / 7739
64
 (HPO:0003027) Mesomelia 58 / 7739
65
 (HPO:0002751) Kyphoscoliosis 131 / 7739
66
 (HPO:0005026) Mesomelic/rhizomelic limb shortening 2 / 7739
67
 (HPO:0001831) Short toe 52 / 7739
68
 (HPO:0001374) Congenital hip dislocation 51 / 7739
69
 (HPO:0001162) Postaxial hand polydactyly 119 / 7739
70
 (HPO:0001545) Anteriorly placed anus 55 / 7739
71
 (HPO:0001537) Umbilical hernia 206 / 7739
72
 (HPO:0001539) Omphalocele 102 / 7739
73
 (HPO:0002025) Anal stenosis 23 / 7739
74
 (HPO:0000023) Inguinal hernia 181 / 7739
75
 (HPO:0002566) Intestinal malrotation 89 / 7739
76
 (HPO:0002023) Anal atresia Occasional [Orphanet] 135 / 7739
77
 (HPO:0000776) Congenital diaphragmatic hernia 36 / 7739
78
 (HPO:0001513) Obesity 172 / 7739
79
 (HPO:0004322) Short stature Very frequent [Orphanet] 1232 / 7739
80
 (HPO:0004326) Cachexia Very frequent [Orphanet] 71 / 7739
81
 (HPO:0007535) Hypopigmented streaks 1 / 7739
82
 (HPO:0007572) Hyperpigmented streaks 2 / 7739
83
 (HPO:0001006) Hypotrichosis Very frequent [Orphanet] 219 / 7739
84
 (HPO:0001639) Hypertrophic cardiomyopathy 137 / 7739
85
 (HPO:0001643) Patent ductus arteriosus 228 / 7739
86
 (HPO:0001629) Ventricular septal defect 316 / 7739
87
 (HPO:0001650) Aortic valve stenosis 49 / 7739
88
 (HPO:0001680) Coarctation of aorta 57 / 7739
89
 (HPO:0001631) Atria septal defect 274 / 7739
90
 (HPO:0004370) Abnormality of temperature regulation Very frequent [Orphanet] 58 / 7739
91
 (HPO:0002089) Pulmonary hypoplasia 80 / 7739
92
 (HPO:0010547) Muscle flaccidity 466 / 7739
93
 (HPO:0001252) Muscular hypotonia Very frequent [Orphanet] 990 / 7739
94
 (HPO:0001324) Muscle weakness 859 / 7739
95
 (HPO:0008947) Infantile muscular hypotonia 482 / 7739
96
 (OMIM) 'Cupid-bow' lip 1 / 7739
97
 (OMIM) Normal to increased head circumference 1 / 7739
98
 (OMIM) Broad, flat nasal root 4 / 7739
99
 (OMIM) Prominent lateral palatine ridge 2 / 7739
100
 (HPO:0030276) Small scrotum 2 / 7739
101
 (OMIM) Sacral appendage 1 / 7739
102
 (OMIM) Normal to increased birth length 1 / 7739
103
 (HPO:0003826) Stillbirth 40 / 7739
104
 (OMIM) Small scrotum 2 / 7739
105
 (OMIM) Coarse facial features over time 1 / 7739
106
 (OMIM) Hypermobile joints 3 / 7739
107
 (OMIM) Absent upper vagina 1 / 7739
108
 (OMIM) Pericardial agenesis 1 / 7739
109
 (OMIM) Mosaic tetrasomy 12p in skin fibroblasts 1 / 7739
110
 (HPO:0001442) Somatic mosaicism 7 / 7739
111
 (OMIM) Contractures develop with age 1 / 7739
112
 (OMIM) Persistence of urogenital sinus/cloaca 1 / 7739
113
 (OMIM) Postnatal deceleration of length 1 / 7739
114
 (OMIM) Distal digital hypoplasia 1 / 7739
115
 (OMIM) Normal to increased birth weight 1 / 7739
116
 (HPO:0012758) Neurodevelopmental delay Very frequent [Orphanet] 949 / 7739
117
 (OMIM) Isochromosome often missing in lymphocyte 1 / 7739
118
 (OMIM) Protruding lobules 1 / 7739

Associated genes:

ClinVar (via SNiPA)

Gene symbol Variation Clinical significance Reference

Additional Information:

Description: (OMIM) Pallister-Killian syndrome is a dysmorphic condition involving most organ systems, but also characterized by a tissue-limited mosaicism; most fibroblasts have 47 chromosomes with an extra small metacentric chromosome, whereas the karyotype of lymphocytes is normal. The extra metacentric ...
Diagnosis OMIM Speleman et al. (1991) used fluorescence in situ hybridization with chromosome 12-specific DNA probes for the rapid and reliable detection of the i(12p) chromosome. Detection was possible also in interphase cells.

Ohashi et al. (1993) used ...
Clinical Description OMIM Schinzel (1991) reviewed the clinical and cytogenetic features of the Pallister-Killian syndrome. Clinical features include profound mental retardation, seizures, streaks of hypo- or hyper-pigmentation, and facial anomalies, including prominent forehead with sparse anterior scalp hair, flat occiput, hypertelorism, ...