| Rank (Similarity) |
PMID (PMCID) |
|
|---|---|---|
| 1 (65.0%) |
16171449 |
Tetraploid/diploid mosaicism with generalized aggressive periodontitis. Tozum TF, Berker E, Akincibay H, Ozer O, Aktas D, Tezcan I, Sekerci SC, El H, Eratalay K, Tuncbilek E. J Periodontol. 2005;76(9):1567-71. |
| Micrognathia Long eyelashes Periodontitis | ||
| Dental Plaque Diploidy Gingival Hypertrophy Homo sapiens Male Mosaicism Periodontitis | ||
| 2 (57.8%) |
14632567 |
A tetraploid liveborn neonate: cytogenetic and autopsy findings. Nakamura Y, Takaira M, Sato E, Kawano K, Miyoshi O, Niikawa N. Arch Pathol Lab Med. 2003;127(12):1612-4. |
| Dandy-Walker malformation Overlapping fingers | ||
| Brain Cytogenetic Analysis Fetus Genetic Polymorphism Homo sapiens Infant, Newborn Magnetic Resonance Imaging Male Polyploidy | ||
| 3 (53.2%) |
16317304 |
Transient progeroid phenotype and lipodystrophy in mosaic polyploidy. Karteszi J, Kosztolanyi G, Czako M, Hadzsiev K, Morava E. Clin Dysmorphol. 2006;15(1):29-31. |
| Arachnodactyly Relative macrocephaly | ||
| Child, Preschool Chromosome Aberrations Females Homo sapiens Infant, Newborn Lipodystrophy Phenotype Polyploidy Progeria | ||
| 4 (40.2%) |
6496571 |
Tetraploidy: a report of three live-born infants. Scarbrough PR, Hersh J, Kukolich MK, Carroll AJ, Finley SC, Hochberger R, Wilkerson S, Yen FF, Althaus BW. Am J Med Genet. 1984;19(1):29-37. |
| Microcephaly Narrow forehead | ||
| Chromosomes, Human, 21-22 and Y Dermatoglyphics Females Homo sapiens Infant, Newborn Male Polyploidy | ||
| 5 (39.0%) |
20305547 |
Mosaic and complete tetraploidy in live-born infants: two new patients and review of the literature. Stefanova I, Jenderny J, Kaminsky E, Mannhardt A, Meinecke P, Grozdanova L, Gillessen-Kaesbach G. Clin Dysmorphol. 2010;19(3):123-7. |
| Microcephaly | ||
| Child, Preschool Females Homo sapiens Infant Infant, Newborn Live Birth Male Mosaicism Polyploidy Young Adult | ||
| 6 (37.4%) |
3055989 |
MCA/MR syndrome in a female infant with tetraploidy mosaicism: review of the human polyploid phenotype. Wilson GN, Vekemans MJ, Kaplan P. Am J Med Genet. 1988;30(4):953-61. |
| Short neck Low posterior hairline | ||
| Females Homo sapiens Infant Intellectual Disability Mosaicism Phenotype Polyploidy Syndrome | ||
| 7 (32.1%) |
2074564 |
Tetraploidy in a liveborn infant. Lopez Pajares I, Delicado A, Diaz de Bustamante A, Pellicer A, Pinel I, Pardo M, Martin M. J Med Genet. 1990;27(12):782-3. |
| Cleft lip | ||
| Growth Disorders Homo sapiens Infant Male Polyploidy | ||
| 8 (26.3%) |
3287924 |
Tetraploidy in a 15-month-old girl. Shiono H, Azumi J, Fujiwara M, Yamazaki H, Kikuchi K. Am J Med Genet. 1988;29(3):543-7. |
| Narrow forehead | ||
| Chromosome Banding Females Fibroblasts Homo sapiens Infant Leukocytes Male Polyploidy Sex Chromosome Aberrations Skin | ||
| 9 (24.9%) |
15658618 |
Prenatal diagnosis of a true fetal tetraploidy in direct and cultured chorionic villi. Schluth C, Doray B, Girard-Lemaire F, Favre R, Flori J, Gasser B, Rudolf G, Flori E. Genet Couns. 2004;15(4):429-36. |
| Spontaneous abortion Fetal cystic hygroma | ||
| Amniocentesis Chorionic Villi Sampling Chromosome Aberrations Fatal Outcome Females Fetal Diseases Homo sapiens Lymphangioma, Cystic Male Mosaicism Placenta Polyploidy Pregnancy Pregnancy Complications Reproducibility of Results Ultrasonography | ||
| 10 (4.0%) |
28331025 |
Tetraploidy acute myeloid leukaemia after chromosome 16 inversion. Vilches AS, Diaz de Bustamante A, Sanchez-Calero J, Darnaude MT. BMJ Case Rep. 2017;2017:. |
| Neutropenia | ||
| Adult Chromosome Aberrations Chromosomes, Human, Pair 16 Fluorescent in Situ Hybridization Homo sapiens Immunophenotyping Leukemia, Myelocytic, Acute Male Neutropenia Remission Induction Tetraploidy |
Total: 17
| HPO ID | Term | Frequency |
|---|---|---|
| HP:0000252 | Microcephaly | Very frequent (99-80%) |
| HP:0000444 | Convex nasal ridge | Very frequent (99-80%) |
| HP:0001511 | Intrauterine growth retardation | Very frequent (99-80%) |
| HP:0002916 | Abnormality of chromosome segregation | Very frequent (99-80%) |
| HP:0004422 | Biparietal narrowing | Very frequent (99-80%) |
| HP:0000322 | Short philtrum | Frequent (79-30%) |
| HP:0000347 | Micrognathia | Frequent (79-30%) |
| HP:0004059 | Radial club hand | Frequent (79-30%) |
| HP:0100720 | Hypoplasia of the ear cartilage | Frequent (79-30%) |
| HP:0000126 | Hydronephrosis | Occasional (29-5%) |
| HP:0000175 | Cleft palate | Occasional (29-5%) |
| HP:0000384 | Preauricular skin tag | Occasional (29-5%) |
| HP:0002308 | Arnold-Chiari malformation | Occasional (29-5%) |
| HP:0006703 | Aplasia/Hypoplasia of the lungs | Occasional (29-5%) |
| HP:0008056 | Aplasia/Hypoplasia affecting the eye | Occasional (29-5%) |
| HP:0008678 | Renal hypoplasia/aplasia | Occasional (29-5%) |
| HP:0010515 | Aplasia/Hypoplasia of the thymus | Occasional (29-5%) |
Total: 17
| HPO ID | Term | # of case reports |
|---|---|---|
| HP:0001909 | Leukemia | 6 |
| HP:0002488 | Acute leukemia | 3 |
| HP:0005268 | Spontaneous abortion | 2 |
| HP:0000141 | Amenorrhea | 1 |
| HP:0000147 | Polycystic ovaries | 1 |
| HP:0000568 | Microphthalmia | 1 |
| HP:0001875 | Neutropenia | 1 |
| HP:0002414 | Spina bifida | 1 |
| HP:0002664 | Neoplasm | 1 |
| HP:0002901 | Hypocalcemia | 1 |
| HP:0003003 | Colon cancer | 1 |
| HP:0007902 | Vitreous hemorrhage | 1 |
| HP:0010878 | Fetal cystic hygroma | 1 |
| HP:0100242 | Sarcoma | 1 |
| HP:0100806 | Sepsis | 1 |
| HP:0410030 | Cleft lip | 1 |
| HP:0410252 | Chronic neutropenia | 1 |
Total: 0
| Gene Symbol | Gene Name | Entrez Gene ID |
|---|