| Rank (Similarity) |
PMID (PMCID) |
|
|---|---|---|
| 1 (66.3%) |
3879151 |
[Trisomy 20p derived from a maternal pericentric inversion and brachymesophalangy of the index finger]. Lucas J, Le Mee F, Le Marec B, Pluquailec K, Journel H, Picard F. Ann Genet. 1985;28(3):167-71. |
| Microretrognathia Round face Upslanted palpebral fissure Brachydactyly | ||
| Child, Preschool Chromosomes, Human, 19-20 Fingers Homo sapiens Male Phenotype Toes Trisomy | ||
| 2 (66.3%) |
21199750 |
Chromosome 1p36 deletion syndrome: prenatal diagnosis, molecular cytogenetic characterization and fetal ultrasound findings. Chen CP, Chen M, Su YN, Hsu CY, Tsai FJ, Chern SR, Wu PC, Lee CC, Wang W. Taiwan J Obstet Gynecol. 2010;49(4):473-80. |
| Pointed chin Long philtrum Micrognathia | ||
| Adult Amniocentesis Chromosome Deletion Chromosomes, Human, Pair 1 Congenital Heart Defects Females Fetal Diseases Homo sapiens Maxillofacial Abnormalities Pregnancy Ultrasonography, Prenatal | ||
| 3 (63.5%) |
12838568 |
Distal monosomy 18p/distal trisomy 20p--a recognizable facial phenotype? Wieczorek D, Bartsch O, Gillessen-Kaesbach G. Am J Med Genet A. 2003;120A(3):429-33. |
| Micrognathia Telecanthus | ||
| Child, Preschool Chromosome Deletion Chromosomes, Human, Pair 18 Chromosomes, Human, Pair 20 Cytogenetic Analysis Developmental Disabilities Facies Fluorescent in Situ Hybridization Homo sapiens Male Trisomy | ||
| 4 (60.4%) |
25847371 |
Dissecting the phenotype of supernumerary marker chromosome 20 in a patient with syndromic Pierre Robin sequence: combinatorial effect of gene dosage and uniparental disomy. Izumi K, Kubota N, Arakawa M, Takayama M, Harada Y, Nakamura T, Nishi E, Hidaka E. Am J Med Genet A. 2015;167(6):1289-93. |
| Pierre-Robin sequence Micrognathia | ||
| Chromosome Banding Chromosomes, Human, Pair 20 Cleft Palate Developmental Disabilities Females Gene Dosage Genetic Association Studies Genetic Markers Homo sapiens Infant Micrognathism Mosaicism Phenotype Pierre Robin Syndrome Pregnancy Trisomy | ||
| 5 (44.7%) |
10494096 |
Detection of a cryptic translocation t(13;20)(q34;p13) in an unexplained case of MCA/MR: value of FISH over high resolution banding. de Die-Smulders CE, Engelen JJ, Albrechts JC, Hamers GJ. Am J Med Genet. 1999;86(4):385-8. |
| Microcephaly Epicanthus | ||
| Child Chromosome Aberrations Chromosome Banding Chromosome Deletion Chromosome Painting Chromosomes, Human, Pair 13 Chromosomes, Human, Pair 20 Facies Fluorescent in Situ Hybridization Homo sapiens Intellectual Disability Male | ||
| 6 (33.1%) |
22259786 (3255494) |
A case of partial trisomy 20p resulting from meiotic recombination of a maternal pericentric inversion. Kang JE, Park MY, Cheon CK, Lee HD, Hwang SH, Yi J. Ann Lab Med. 2012;32(1):91-4. |
| Ambiguous genitalia Sacral dimple Clinodactyly | ||
| Adult Chromosomes, Human, Pair 20 Females Homo sapiens Infant, Newborn Phenotype Recombination, Genetic Trisomy | ||
| 7 (26.3%) |
469903 |
Trisomy 20p from maternal t(3;20) translocation. Archidiacono N, Tecilazich D, Tonini G, Rocchi M, Filippi G. J Med Genet. 1979;16(3):229-32. |
| Round face | ||
| Child, Preschool Chromosomes, Human, 19-20 Face Females Homo sapiens Strabismus Tetralogy of Fallot Trisomy | ||
| 7 (26.3%) |
302689 |
Familial trisomy 20p five cases and two carriers in three generations a review. Centerwall W, Francke U. Ann Genet. 1977;20(2):77-83. |
| Round face | ||
| Child Chromosomes, Human, 19-20 Females Homo sapiens Intellectual Disability Male Trisomy | ||
| 9 (23.3%) |
17431912 |
De novo trisomy 20p of paternal origin. Chaabouni M, Turleau C, Karboul L, Jemaa LB, Maazoul F, Attie-Bitach T, Romana S, Chaabouni H. Am J Med Genet A. 2007;143A(10):1100-3. |
| Cryptorchidism Kyphosis | ||
| Child, Preschool Chromosome Banding Chromosomes, Human, Pair 20 Fingers Fluorescent in Situ Hybridization Homo sapiens Male Polydactyly Trisomy | ||
| 10 (21.2%) |
25900371 |
Mosaic tetrasomy 20p associated with osteoporosis and recurrent fractures. Maziad AS, Seaver LH. Am J Med Genet A. 2015;167(7):1582-6. |
| Osteopenia | ||
| BMP2 | ||
| Chromosomes, Human, Pair 20 Genetic Markers Homo sapiens Male Microarray Analysis Mosaicism Osteoporosis Single Nucleotide Polymorphism Tetrasomy Urothelium |
Total: 71
| HPO ID | Term | Frequency |
|---|---|---|
| HP:0000293 | Full cheeks | Very frequent (99-80%) |
| HP:0000311 | Round face | Very frequent (99-80%) |
| HP:0000411 | Protruding ear | Very frequent (99-80%) |
| HP:0000470 | Short neck | Very frequent (99-80%) |
| HP:0000574 | Thick eyebrow | Very frequent (99-80%) |
| HP:0001252 | Muscular hypotonia | Very frequent (99-80%) |
| HP:0001288 | Gait disturbance | Very frequent (99-80%) |
| HP:0001999 | Abnormal facial shape | Very frequent (99-80%) |
| HP:0002167 | Neurological speech impairment | Very frequent (99-80%) |
| HP:0002271 | obsolete Autonomic dysregulation | Very frequent (99-80%) |
| HP:0002311 | Incoordination | Very frequent (99-80%) |
| HP:0002553 | Highly arched eyebrow | Very frequent (99-80%) |
| HP:0002916 | Abnormality of chromosome segregation | Very frequent (99-80%) |
| HP:0003312 | Abnormal form of the vertebral bodies | Very frequent (99-80%) |
| HP:0005692 | Joint hyperflexibility | Very frequent (99-80%) |
| HP:0100543 | Cognitive impairment | Very frequent (99-80%) |
| HP:0100790 | Hernia | Very frequent (99-80%) |
| HP:0000023 | Inguinal hernia | Frequent (79-30%) |
| HP:0000164 | Abnormality of the dentition | Frequent (79-30%) |
| HP:0000174 | Abnormal palate morphology | Frequent (79-30%) |
| HP:0000248 | Brachycephaly | Frequent (79-30%) |
| HP:0000286 | Epicanthus | Frequent (79-30%) |
| HP:0000294 | Low anterior hairline | Frequent (79-30%) |
| HP:0000316 | Hypertelorism | Frequent (79-30%) |
| HP:0000347 | Micrognathia | Frequent (79-30%) |
| HP:0000368 | Low-set, posteriorly rotated ears | Frequent (79-30%) |
| HP:0000400 | Macrotia | Frequent (79-30%) |
| HP:0000463 | Anteverted nares | Frequent (79-30%) |
| HP:0000486 | Strabismus | Frequent (79-30%) |
| HP:0000582 | Upslanted palpebral fissure | Frequent (79-30%) |
| HP:0001156 | Brachydactyly | Frequent (79-30%) |
| HP:0001357 | Plagiocephaly | Frequent (79-30%) |
| HP:0001537 | Umbilical hernia | Frequent (79-30%) |
| HP:0001760 | Abnormality of the foot | Frequent (79-30%) |
| HP:0001883 | Talipes | Frequent (79-30%) |
| HP:0002162 | Low posterior hairline | Frequent (79-30%) |
| HP:0002208 | Coarse hair | Frequent (79-30%) |
| HP:0002414 | Spina bifida | Frequent (79-30%) |
| HP:0003196 | Short nose | Frequent (79-30%) |
| HP:0003272 | Abnormality of the hip bone | Frequent (79-30%) |
| HP:0006101 | Finger syndactyly | Frequent (79-30%) |
| HP:0100874 | Thick hair | Frequent (79-30%) |
| HP:0000028 | Cryptorchidism | Occasional (29-5%) |
| HP:0000047 | Hypospadias | Occasional (29-5%) |
| HP:0000053 | Macroorchidism | Occasional (29-5%) |
| HP:0000069 | Abnormality of the ureter | Occasional (29-5%) |
| HP:0000077 | Abnormality of the kidney | Occasional (29-5%) |
| HP:0000126 | Hydronephrosis | Occasional (29-5%) |
| HP:0000232 | Everted lower lip vermilion | Occasional (29-5%) |
| HP:0000233 | Thin vermilion border | Occasional (29-5%) |
| HP:0000268 | Dolichocephaly | Occasional (29-5%) |
| HP:0000319 | Smooth philtrum | Occasional (29-5%) |
| HP:0000322 | Short philtrum | Occasional (29-5%) |
| HP:0000494 | Downslanted palpebral fissures | Occasional (29-5%) |
| HP:0000581 | Blepharophimosis | Occasional (29-5%) |
| HP:0000691 | Microdontia | Occasional (29-5%) |
| HP:0000926 | Platyspondyly | Occasional (29-5%) |
| HP:0001177 | Preaxial hand polydactyly | Occasional (29-5%) |
| HP:0002007 | Frontal bossing | Occasional (29-5%) |
| HP:0002564 | obsolete Malformation of the heart and great vessels | Occasional (29-5%) |
| HP:0002650 | Scoliosis | Occasional (29-5%) |
| HP:0002714 | Downturned corners of mouth | Occasional (29-5%) |
| HP:0002808 | Kyphosis | Occasional (29-5%) |
| HP:0003422 | Vertebral segmentation defect | Occasional (29-5%) |
| HP:0004349 | Reduced bone mineral density | Occasional (29-5%) |
| HP:0004397 | Ectopic anus | Occasional (29-5%) |
| HP:0005562 | Multiple renal cysts | Occasional (29-5%) |
| HP:0006610 | Wide intermamillary distance | Occasional (29-5%) |
| HP:0009738 | Abnormality of the antihelix | Occasional (29-5%) |
| HP:0100490 | Camptodactyly of finger | Occasional (29-5%) |
| HP:0100542 | Abnormal localization of kidney | Occasional (29-5%) |
Total: 6
| HPO ID | Term | # of case reports |
|---|---|---|
| HP:0000053 | Macroorchidism | 1 |
| HP:0000347 | Micrognathia | 1 |
| HP:0000938 | Osteopenia | 1 |
| HP:0001629 | Ventricular septal defect | 1 |
| HP:0002119 | Ventriculomegaly | 1 |
| HP:0002323 | Anencephaly | 1 |
Total: 0
| Gene Symbol | Gene Name | Entrez Gene ID |
|---|