| Rank (Similarity) |
PMID (PMCID) |
|
|---|---|---|
| 1 (70.8%) |
17163546 |
Subtelomeric analysis detects a familial 10p;12p rearrangement in two relatives with a distinct syndrome. Battaglia A, Novelli A, Ceccarini C, Bernardini L, Carey JC. Am J Med Genet A. 2007;143A(2):184-8. |
| Epicanthus Short philtrum Micrognathia | ||
| Adult Child, Preschool Chromosome Aberrations Chromosomes, Human, Pair 10 Chromosomes, Human, Pair 12 Craniofacial Abnormalities Females Foot Homo sapiens Intellectual Disability Monosomy Syndrome Trisomy | ||
| 2 (58.7%) |
148983 |
Trisomy 12p syndrome. Evaluation of a family with a t(12;21) (p12.1;p11) translocation with unbalanced offspring. Hansteen IL, Schirmer L, Hestetun S. Clin Genet. 1978;13(4):339-49. |
| Broad face Short sternum Genu valgum | ||
| NBL1 | ||
| Child Chromosomes, Human, 21-22 and Y Chromosomes, Human, 6-12 and X Dermatoglyphics Down Syndrome Females Growth Disorders Homo sapiens Infant Intellectual Disability Male Syndrome Trisomy | ||
| 3 (50.0%) |
8723117 |
Clinical and molecular cytogenetic observations in three cases of "trisomy 12p syndrome". Rauch A, Trautmann U, Pfeiffer RA. Am J Med Genet. 1996;63(1):243-9. |
| Macrocephaly High forehead Polydactyly | ||
| Child, Preschool Chromosomes, Human, Pair 12 Cosmids Females Fluorescent in Situ Hybridization Homo sapiens Infant, Newborn Intellectual Disability Lymphocyte Male Syndrome Trisomy | ||
| 4 (40.2%) |
16652358 |
Intrachromosomal triplication 12p11.22-p12.3 and gonadal mosaicism of partial tetrasomy 12p. Eckel H, Wimmer R, Volleth M, Jakubiczka S, Muschke P, Wieacker P. Am J Med Genet A. 2006;140(11):1219-22. |
| Macrocephaly Short nose | ||
| Chromosome Aberrations Chromosome Banding Chromosomes, Human, Pair 12 Craniofacial Abnormalities Females Fluorescent in Situ Hybridization Homo sapiens Intellectual Disability Male Mosaicism | ||
| 5 (40.1%) |
22959136 |
A new partial trisomy 12p with artery catheter vagus, congenital cataracts, external auditory canal, and no turbinate. Liu YH, Xie RG, Zhang XY, Wei SD, He Y, Xu WF, Lin YY, Xiong F. Gene. 2012;509(1):164-7. |
| Open mouth Short neck | ||
| POLE4 TMED2 | ||
| Adult Aorta Cataract Chromosomes, Human, Pair 12 Chromosomes, Human, Pair 6 Females Homo sapiens Male Membrane Glycoproteins Membrane Transport Proteins Pregnancy Trisomy Turbinates | ||
| 5 (40.1%) |
9249870 |
Prenatal diagnosis of partial trisomy 12 and partial trisomy 21 due to a 3:1 segregation of maternal reciprocal translocation t(12;21) (p13.3;q21). Chen CP, Lin CC, Chuang CY, Lee CC, Chen WL, Jan SW, Lin SP. Prenat Diagn. 1997;17(7):675-80. |
| Open mouth Short neck | ||
| Adult Chromosomes, Human, Pair 12 Down Syndrome Females Homo sapiens Phenotype Pregnancy Trisomy | ||
| 7 (39.8%) |
422196 |
Trisomy 12p syndrome: de novo occurrence of mosaic trisomy 12p in a mentally retarded boy. Kondo I, Hamaguchi H, Haneda T. Hum Genet. 1979;46(2):135-40. |
| Epicanthus Generalized hypotonia | ||
| Chromosome Banding Chromosomes, Human, 6-12 and X Congenital Foot Deformity Face Homo sapiens Infant Intellectual Disability Male Mosaicism Syndrome Trisomy | ||
| 8 (26.3%) |
24503147 |
Report on 3 patients with 12p duplication including GRIN2B. Poirsier C, Landais E, Bednarek N, Nobecourt JM, Khoury M, Schmidt P, Morville P, Gruson N, Clomes S, Michel N, Riot A, Manjeongean C, Gaillard D, Doco-Fenzy M. Eur J Med Genet. 2014;57(5):185-94. |
| High forehead | ||
| GRIN2B | ||
| Adult Chromosomes, Human, Pair 12 Females Homo sapiens Male N-Methyl-D-Aspartate Receptors Trisomy | ||
| 8 (26.3%) |
858622 |
Partial trisomy 12p due to t(12;21)pat translocation. Biederman B, Bowen P, Robertson C, Schiff D. Hum Genet. 1977;36(1):35-41. |
| Ptosis Prominent forehead | ||
| Chromosome Aberrations Chromosomes, Human, 21-22 and Y Chromosomes, Human, 6-12 and X Females Homo sapiens Infant Infant, Newborn Phenotype Trisomy | ||
| 8 (26.3%) |
624544 |
Double translocation t(7;12),t(2;6) heterozygosity in one family. A contribution to the trisomy 12p syndrome. Bijlsma JB, de France HF, Bleeker-Wagemakers LM, Dijkstra PF. Hum Genet. 1978;40(2):135-47. |
| Short nose | ||
| Chromosomes, Human, 1-3 Chromosomes, Human, 6-12 and X Heterozygote Homo sapiens Intellectual Disability Male Trisomy |
Total: 31
| HPO ID | Term | Frequency |
|---|---|---|
| HP:0000232 | Everted lower lip vermilion | Very frequent (99-80%) |
| HP:0000262 | Turricephaly | Very frequent (99-80%) |
| HP:0000272 | Malar flattening | Very frequent (99-80%) |
| HP:0000286 | Epicanthus | Very frequent (99-80%) |
| HP:0000293 | Full cheeks | Very frequent (99-80%) |
| HP:0000316 | Hypertelorism | Very frequent (99-80%) |
| HP:0000347 | Micrognathia | Very frequent (99-80%) |
| HP:0000431 | Wide nasal bridge | Very frequent (99-80%) |
| HP:0000470 | Short neck | Very frequent (99-80%) |
| HP:0000474 | Thickened nuchal skin fold | Very frequent (99-80%) |
| HP:0000574 | Thick eyebrow | Very frequent (99-80%) |
| HP:0001176 | Large hands | Very frequent (99-80%) |
| HP:0001249 | Intellectual disability | Very frequent (99-80%) |
| HP:0001263 | Global developmental delay | Very frequent (99-80%) |
| HP:0002714 | Downturned corners of mouth | Very frequent (99-80%) |
| HP:0002916 | Abnormality of chromosome segregation | Very frequent (99-80%) |
| HP:0003196 | Short nose | Very frequent (99-80%) |
| HP:0004209 | Clinodactyly of the 5th finger | Very frequent (99-80%) |
| HP:0009738 | Abnormality of the antihelix | Very frequent (99-80%) |
| HP:0012368 | Flat face | Very frequent (99-80%) |
| HP:0000369 | Low-set ears | Frequent (79-30%) |
| HP:0000520 | Proptosis | Frequent (79-30%) |
| HP:0002564 | obsolete Malformation of the heart and great vessels | Frequent (79-30%) |
| HP:0002750 | Delayed skeletal maturation | Frequent (79-30%) |
| HP:0004322 | Short stature | Frequent (79-30%) |
| HP:0000079 | Abnormality of the urinary system | Occasional (29-5%) |
| HP:0000175 | Cleft palate | Occasional (29-5%) |
| HP:0002023 | Anal atresia | Occasional (29-5%) |
| HP:0002558 | Supernumerary nipple | Occasional (29-5%) |
| HP:0008053 | Aplasia/Hypoplasia of the iris | Occasional (29-5%) |
| HP:0008056 | Aplasia/Hypoplasia affecting the eye | Occasional (29-5%) |
Total: 21
| HPO ID | Term | # of case reports |
|---|---|---|
| HP:0003196 | Short nose | 5 |
| HP:0000256 | Macrocephaly | 2 |
| HP:0000348 | High forehead | 2 |
| HP:0000470 | Short neck | 2 |
| HP:0001290 | Generalized hypotonia | 2 |
| HP:0012368 | Flat face | 2 |
| HP:0000283 | Broad face | 1 |
| HP:0000395 | Prominent antihelix | 1 |
| HP:0000518 | Cataract | 1 |
| HP:0000879 | Short sternum | 1 |
| HP:0001252 | Muscular hypotonia | 1 |
| HP:0001263 | Global developmental delay | 1 |
| HP:0001763 | Pes planus | 1 |
| HP:0002023 | Anal atresia | 1 |
| HP:0002857 | Genu valgum | 1 |
| HP:0008070 | Sparse hair | 1 |
| HP:0010442 | Polydactyly | 1 |
| HP:0011150 | Myoclonic absence | 1 |
| HP:0011220 | Prominent forehead | 1 |
| HP:0025356 | Psychomotor retardation | 1 |
| HP:0031110 | Twin-to-twin transfusion | 1 |
Total: 0
| Gene Symbol | Gene Name | Entrez Gene ID |
|---|