| Rank (Similarity) |
PMID (PMCID) |
|
|---|---|---|
| 1 (74.2%) |
881192 |
Partial trisomy 8q in half-sisters with distinct dysmorphic patterns not similar to the trisomy 8 mosaicism syndrome. Schinzel A. Hum Genet. 1977;37(1):17-26. |
| Short upper lip Short finger | ||
| STAT2 | ||
| Child Child, Preschool Chromosomes, Human, 6-12 and X Females Growth Disorders Homo sapiens Intellectual Disability Mosaicism Trisomy Ventricular Septal Defects | ||
| 2 (69.4%) |
19650409 |
A severely mentally and motor retarded girl with monosomy 3pter-->p25 and trisomy 8q24-->qter due to a familial reciprocal translocation t(3;8)(p25;q24). Balci S, Aypar E, Beksac MS, Bartsch O. Genet Couns. 2009;20(2):125-32. |
| Long philtrum Micrognathia Synophrys | ||
| TPPP | ||
| Amniocentesis Child Chromosome Aberrations Chromosome Mapping Chromosomes, Human, Pair 3 Chromosomes, Human, Pair 8 DNA-Binding Proteins Females Fluorescent in Situ Hybridization Genetic Carrier Screening Genetic Counseling Genotype Homo sapiens Infant Infant, Newborn Intellectual Disability Male Monosomy Pregnancy Psychomotor Disorders Repressor Proteins Trisomy Von Hippel-Lindau Tumor Suppressor Protein | ||
| 3 (57.8%) |
6846399 |
Duplication 8q syndrome due to familial chromosome ins(10;8)(q21;q212q22). Bowen P, Fitzgerald PH, Gardner RJ, Biederman B, Veale AM. Am J Med Genet. 1983;14(4):635-46. |
| Micrognathia | ||
| Adult Child, Preschool Chromosome Aberrations Chromosome Banding Chromosomes, Human, 6-12 and X Dermatoglyphics Face Females Homo sapiens Infant Infant, Newborn Intellectual Disability Male Mosaicism Syndrome Trisomy | ||
| 3 (57.8%) |
6733948 |
Five generations of t(4;8)(q35;q13) leading to a case of partial 8q trisomy with consideration of potential pregnancy outcomes from translocation carriers. Young RS, Hansen KL, Khodr GS. Clin Genet. 1984;25(6):522-7. |
| Micrognathia | ||
| Abortion, Habitual Chromosome Aberrations Chromosomes, Human, 4-5 Chromosomes, Human, 6-12 and X Females Genetic Counseling Homo sapiens Infant, Newborn Pregnancy Trisomy | ||
| 5 (39.0%) |
302674 |
[Chromosome 8 : complete trisomy and segmental trisomies]. Rethore MO, Aurias A, Couturier J, Dutrillaux B, Prieur M, Lejeune J. Ann Genet. 1977;20(1):5-11. |
| Microcephaly | ||
| Adult Child Child, Preschool Chromosomes, Human, 6-12 and X Females Homo sapiens Intellectual Disability Male Mosaicism Syndrome Trisomy | ||
| 6 (23.3%) |
25365853 |
Array-CGH and clinical findings in a patient with a small supernumerary r(8) mosaicism. Eyupoglu FC, Sunnetci D, Cine N, Savli H, Okten A, Acikgoz EG, Sonmez FM. Genet Couns. 2014;25(3):305-13. |
| Hypospadias Thoracolumbar scoliosis | ||
| ENDOU | ||
| Child, Preschool Chromosome Banding Chromosomes, Human, Pair 8 Craniofacial Abnormalities Cytogenetic Analysis Developmental Disabilities Disorders of Sex Development Follow-Up Studies Homo sapiens Infant Infant, Newborn Male Mosaicism Ring Chromosomes Trisomy | ||
| 6 (23.3%) |
9885021 |
Partial trisomy 8q and partial monosomy 15q associated with congenital hydrocephalus, diaphragmatic hernia, urinary tract anomalies, congenital heart defect and kyphoscoliosis. Chen CP, Lee CC, Pan CW, Kir TY, Chen BF. Prenat Diagn. 1998;18(12):1289-93. |
| Horseshoe kidney Kyphoscoliosis | ||
| Adult Chromosomes, Human, Pair 15 Chromosomes, Human, Pair 8 Congenital Heart Defects Females Fetal Growth Retardation Homo sapiens Hydrocephalus Male Monosomy Pregnancy Trisomy Ultrasonography, Prenatal Urologic Diseases | ||
| 8 (4.0%) |
23054642 |
Cerebriform variant type of T cell prolymphocytic leukemia with complex karyotype including an additional segment at 1p36.1. Kasahara S, Tsurumi H, Shibata Y, Matsumoto T, Nakamura N, Nakamura H, Kanemura N, Goto N, Hara T, Moriwaki H. Int J Hematol. 2012;96(5):674-8. |
| Hepatosplenomegaly | ||
| Abnormal Karyotype Chromosomes, Human, Pair 1 Fatal Outcome Homo sapiens Male Middle Aged T-Cell Prolymphocytic Leukemia | ||
| 8 (4.0%) |
16838305 |
Trisomy 8q and partial trisomy 22 in a 43-year-old man with moderate intellectual disability, epilepsy and large cell non-Hodgkin lymphoma. Helbig I, Wirtenberger M, Jauch A, Hager HD, Tariverdian G, Hemminki K, Burwinkel B, Klaes R. Am J Med Genet A. 2006;140(15):1658-62. |
| Intellectual disability | ||
| MYC | ||
| Adult Chromosome Aberrations Chromosomes, Human, Pair 22 Chromosomes, Human, Pair 8 Diffuse Large B-Cell Lymphoma Epilepsy Fluorescent in Situ Hybridization Genotype Homo sapiens Intellectual Disability Lymphoma, Non-Hodgkin Male Phenotype Single Nucleotide Polymorphism Trisomy | ||
| 8 (4.0%) |
11920839 |
Girl with combined cellular immunodeficiency, pancytopenia, malformations, deletion 11q23.3 --> qter, and trisomy 8q24.3 --> qter. Ounap K, Bartsch O, Uibo O, Laidre P. Am J Med Genet. 2002;108(4):322-6. |
| Pancytopenia | ||
| ETS1 KMT2A NFRKB | ||
| Child, Preschool Chromosome Deletion Chromosomes, Human, Pair 11 Chromosomes, Human, Pair 8 Females Fluorescent in Situ Hybridization Homo sapiens Pancytopenia Proto-Oncogene Mas Severe Combined Immunodeficiency Short Tandem Repeat Trisomy |
Total: 30
| HPO ID | Term | Frequency |
|---|---|---|
| HP:0000232 | Everted lower lip vermilion | Very frequent (99-80%) |
| HP:0000316 | Hypertelorism | Very frequent (99-80%) |
| HP:0000347 | Micrognathia | Very frequent (99-80%) |
| HP:0000348 | High forehead | Very frequent (99-80%) |
| HP:0000431 | Wide nasal bridge | Very frequent (99-80%) |
| HP:0000470 | Short neck | Very frequent (99-80%) |
| HP:0000582 | Upslanted palpebral fissure | Very frequent (99-80%) |
| HP:0001263 | Global developmental delay | Very frequent (99-80%) |
| HP:0001328 | Specific learning disability | Very frequent (99-80%) |
| HP:0002916 | Abnormality of chromosome segregation | Very frequent (99-80%) |
| HP:0010751 | Dimple chin | Very frequent (99-80%) |
| HP:0100818 | Long thorax | Very frequent (99-80%) |
| HP:0000028 | Cryptorchidism | Frequent (79-30%) |
| HP:0000175 | Cleft palate | Frequent (79-30%) |
| HP:0000190 | Abnormal oral frenulum morphology | Frequent (79-30%) |
| HP:0000218 | High palate | Frequent (79-30%) |
| HP:0000368 | Low-set, posteriorly rotated ears | Frequent (79-30%) |
| HP:0000411 | Protruding ear | Frequent (79-30%) |
| HP:0001387 | Joint stiffness | Frequent (79-30%) |
| HP:0002564 | obsolete Malformation of the heart and great vessels | Frequent (79-30%) |
| HP:0008736 | Hypoplasia of penis | Frequent (79-30%) |
| HP:0010297 | Bifid tongue | Frequent (79-30%) |
| HP:0100335 | Non-midline cleft lip | Frequent (79-30%) |
| HP:0100627 | Displacement of the urethral meatus | Frequent (79-30%) |
| HP:0000202 | Oral cleft | Occasional (29-5%) |
| HP:0001156 | Brachydactyly | Occasional (29-5%) |
| HP:0002475 | Myelomeningocele | Occasional (29-5%) |
| HP:0006191 | Deep palmar crease | Occasional (29-5%) |
| HP:0012062 | Bone cyst | Occasional (29-5%) |
| HP:0100490 | Camptodactyly of finger | Occasional (29-5%) |
Total: 8
| HPO ID | Term | # of case reports |
|---|---|---|
| HP:0000347 | Micrognathia | 1 |
| HP:0000568 | Microphthalmia | 1 |
| HP:0001249 | Intellectual disability | 1 |
| HP:0001876 | Pancytopenia | 1 |
| HP:0002751 | Kyphoscoliosis | 1 |
| HP:0005363 | Humoral immunodeficiency | 1 |
| HP:0005374 | Cellular immunodeficiency | 1 |
| HP:0100790 | Hernia | 1 |
Total: 0
| Gene Symbol | Gene Name | Entrez Gene ID |
|---|