| Rank (Similarity) |
PMID (PMCID) |
|
|---|---|---|
| 11 (4.0%) |
24311374 |
Combined immunodeficiency in a 3-year-old boy with 16p11.2 and 20p12.2-11.2 chromosomal duplications. Batanian JR, Braddock SR, Christensen K, Knutsen AP. Am J Med Genet A. 2014;164A(2):535-41. |
| Immunodeficiency | ||
| Adult Child, Preschool Chromosomal Duplication Chromosomes, Human, Pair 16 Chromosomes, Human, Pair 20 Facies Homo sapiens Male Severe Combined Immunodeficiency | ||
| 11 (4.0%) |
23612255 |
De novo trisomy 20p characterized by array comparative genomic hybridization: report of a novel case and review of the literature. Bartolini L, Sartori S, Lenzini E, Rigon C, Cainelli E, Agrati C, Toldo I, Dona M, Trevisson E. Gene. 2013;524(2):368-72. |
| Hyperactivity | ||
| Abnormal Karyotype Apgar Score Arachnoid Cysts Child, Preschool Chromosome Painting Chromosomes, Human, Pair 20 Chromosomes, Human, Pair 3 Homo sapiens Infant Male Phenotype Trisomy | ||
| 11 (4.0%) |
21948691 |
Maternally inherited partial monosomy 9p (pter → p24.1) and partial trisomy 20p (pter → p12.1) characterized by microarray comparative genomic hybridization. Freitas EL, Gribble SM, Simioni M, Vieira TP, Silva-Grecco RL, Balarin MA, Prigmore E, Krepischi-Santos AC, Rosenberg C, Szuhai K, van Haeringen A, Carter NP, Gil-da-Silva-Lopes VL. Am J Med Genet A. 2011;155A(11):2754-61. |
| Hypertelorism | ||
| AVP BMP2 DOCK8 DROSHA FOXD4 JAG1 MIS18BP1 MKKS PROKR2 RASSF2 RSPO4 VLDLR | ||
| Abnormal Karyotype Child, Preschool Chromosome Deletion Chromosome Mapping Chromosomes, Human, Pair 20 Chromosomes, Human, Pair 9 DNA Copy Number Variations Developmental Disabilities Fluorescent in Situ Hybridization Forkhead Transcription Factors Genome, Human Guanine Nucleotide Exchange Factors Homo sapiens Intellectual Disability Male Metaphase Physical Examination Trisomy | ||
| 11 (4.0%) |
16485319 |
Partial trisomy 20p resulting from recombination of a maternal pericentric inversion: case report of a prenatal diagnosis by chorionic villus sampling. Molina-Gomes D, Nebout V, Daikha-Dahmane F, Vialard F, Ville Y, Selva J. Prenat Diagn. 2006;26(3):239-41. |
| Increased nuchal translucency | ||
| Adult Chorionic Villi Sampling Chromosomes, Human, Pair 20 Females Fetal Diseases Homo sapiens Male Pregnancy Trisomy | ||
| 11 (4.0%) |
10398268 |
Trisomy 20p resulting from inverted duplication and neocentromere formation. Voullaire L, Saffery R, Davies J, Earle E, Kalitsis P, Slater H, Irvine DV, Choo KH. Am J Med Genet. 1999;85(4):403-8. |
| Chromosome breakage | ||
| CENPA CENPB CENPC CENPE CENPF INCENP | ||
| Centromere Child, Preschool Chromosomes, Human, Pair 20 Cytogenetics Females Fluorescent in Situ Hybridization Gene Duplication Homo sapiens Short Tandem Repeat Trisomy | ||
| 11 (4.0%) |
8418651 |
Duplication (20p) in association with thyroid carcinoma. Clark P, Jones KL, Freidenberg GR. Am J Med Genet. 1993;45(1):14-6. |
| Mutism | ||
| Adenocarcinoma Chromosome Aberrations Chromosomes, Human, Pair 12 Chromosomes, Human, Pair 20 Females Homo sapiens Intellectual Disability Multigene Family Thyroid Neoplasm | ||
| 11 (4.0%) |
6609676 |
"De Novo" trisomy 20p with macroorchidism in a prepuberal boy. Balestrazzi P, Virdis R, Frassi C, Negri V, Rigoli E, Bernasconi S. Ann Genet. 1984;27(1):58-9. |
| Macroorchidism | ||
| Child Chromosomes, Human, 19-20 Homo sapiens Intellectual Disability Male Testis Trisomy | ||
| 11 (4.0%) |
3981145 |
Trisomy 20p: case report and genetic review. Lurie IW, Rumyantseva NV, Zaletajev DV, Gurevich DB, Korotkova IA. J Genet Hum. 1985;33(1):67-75. |
| Psychomotor retardation | ||
| Chromosomes, Human, 13-15 Chromosomes, Human, 19-20 Females Homo sapiens Infant Trisomy | ||
| 11 (4.0%) |
2610493 |
Trisomy 20p from maternal translocation and anencephaly. Case report and genetic review. Zumel RM, Darnaude MT, Delicado A, Diaz de Bustamante A, de Torres ML, Lopez Pajares I. Ann Genet. 1989;32(4):247-9. |
| Anencephaly | ||
| Abortion, Habitual Anencephaly Chromosomes, Human, Pair 15 Chromosomes, Human, Pair 20 Females Homo sapiens Pregnancy Trisomy |
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 |
|---|