| Rank (Similarity) |
PMID (PMCID) |
|
|---|---|---|
| 1 (63.5%) |
4003955 |
[Trisomy 5p: a report of 2 cases]. Alvarez-Coca J, Garcia-Alix A, Delicado A, Gonzalez M, Escriba R, Lopez Pajares I, Morena V, Peralta A. An Esp Pediatr. 1985;22(4):288-92. |
| Epicanthus Micrognathia | ||
| Chromosome Aberrations Chromosomes, Human, 4-5 Homo sapiens Infant Infant, Newborn Male Syndrome Trisomy | ||
| 2 (58.9%) |
4085794 |
[A new case of trisomy 5p]. Antonenko VG, Levina LIa, Chudnova VI. Genetika. 1985;21(12):2066-70. |
| Macrocephaly Epicanthus Long fingers | ||
| Adult Chromosome Aberrations Chromosome Banding Chromosomes, Human, 4-5 Females Homo sapiens Infant, Newborn Phenotype Trisomy | ||
| 3 (49.1%) |
22269966 |
40 Mb duplication in chromosome band 5p13.1p15.33 with 800 kb terminal deletion in a foetus with mild phenotypic features. Izzo A, Genesio R, Ronga V, Nocera V, Marullo L, Cicatiello R, Sglavo G, Paladini D, Conti A, Nitsch L. Eur J Med Genet. 2012;55(2):140-4. |
| Short femur | ||
| Chromosomes, Human, Pair 5 Females Fetus Gene Duplication Homo sapiens Phenotype Pregnancy Sequence Deletion Ultrasonography, Prenatal | ||
| 4 (44.7%) |
437770 |
"Complete" trisomy 5p; de novo translocation t(2;5)(q36;p11) with isochromosome 5p. Case report and review of the literature. Leschot NJ, Lim KS. Hum Genet. 1979;46(3):271-8. |
| Macrocephaly Epicanthus | ||
| Child, Preschool Chromosomes, Human, 4-5 Dermatoglyphics Females Homo sapiens Psychomotor Disorders Trisomy | ||
| 5 (40.2%) |
19239081 |
Cri du chat mosaicism: an unusual case of partial deletion and partial deletion/ duplication of the short arm of chromosome 5, leading to an unusual cri du chat phenotype. Murru D, Boccone L, Ristaldi MS, Nucaro AL. Genet Couns. 2008;19(4):381-6. |
| Microcephaly Round face | ||
| Child Chromosome Banding Chromosome Deletion Chromosomes, Human, Pair 5 Craniofacial Abnormalities Cri-du-Chat Syndrome Fluorescent in Situ Hybridization Gene Duplication Homo sapiens Male Mosaicism Phenotype | ||
| 5 (40.2%) |
689689 |
Partial trisomy-5p. Yunis E, Silva R, Egel H, Zuniga R, Torres de Caballero OM, Ramirez E, Poveda de Ruiz H. Hum Genet. 1978;43(2):231-7. |
| Dolichocephaly Prominent nasal bridge | ||
| Child Chromosomes, Human, 4-5 Dermatoglyphics Homo sapiens Intellectual Disability Male Syndrome Trisomy | ||
| 7 (39.0%) |
24517234 (3923007) |
A coalescence of two syndromes in a girl with terminal deletion and inverted duplication of chromosome 5. Krgovic D, Blatnik A, Burmas A, Zagorac A, Kokalj Vokac N. BMC Med Genet. 2014;15:21. |
| Macrocephaly | ||
| Chromosomal Duplication Chromosome Deletion Chromosomes, Human, Pair 5 Cri-du-Chat Syndrome Females Fluorescent in Situ Hybridization Homo sapiens Infant Pregnancy | ||
| 7 (39.0%) |
21211577 |
3.7 Mb tandem microduplication in chromosome 5p13.1-p13.2 associated with developmental delay, macrocephaly, obesity, and lymphedema. Further characterization of the dup(5p13) syndrome. Oexle K, Hempel M, Jauch A, Meitinger T, Rivera-Brugues N, Stengel-Rutkowski S, Strom T. Eur J Med Genet. 2011;54(3):225-30. |
| Macrocephaly | ||
| NIPBL | ||
| rs261752 rs4703415 | ||
| Child Child, Preschool Chromosome Aberrations Chromosomes, Human, Pair 5 Developmental Disabilities Fluorescent in Situ Hybridization Follow-Up Studies Gene Duplication Homo sapiens Infant Lymphedema Macrocephaly Male Obesity Syndrome Young Adult | ||
| 7 (39.0%) |
10405440 |
De novo complete trisomy 5p: clinical report and FISH studies. Reichenbach H, Holland H, Dalitz E, Demandt C, Meiner A, Chudoba I, Lemke J, Claussen U, Froster UG. Am J Med Genet. 1999;85(5):447-51. |
| Macrocephaly | ||
| Centromere Chromosome Mapping Chromosome Painting Chromosomes, Human, Pair 5 Craniofacial Abnormalities Cri-du-Chat Syndrome Fluorescent in Situ Hybridization Homo sapiens Infant Intellectual Disability Male Psychomotor Performance Respiratory Tract Infections Trisomy | ||
| 10 (30.8%) |
29141250 |
A Small Supernumerary Marker Derived from the Pericentromeric Region of Chromosome 5: Case Report and Delineation of Partial Trisomy 5p Phenotype. Camerota L, Pitzianti M, Postorivo D, Nardone AM, Ligas C, Moretti C, Pasini A, Brancati F. Cytogenet Genome Res. 2017;153(1):22-28. |
| Hypertelorism Short palpebral fissure | ||
| NIPBL | ||
| Autistic Disorder Cell Cycle Proteins Chromosomes, Human, Pair 5 Craniofacial Abnormalities Females Homo sapiens Proteins Trisomy |
Total: 17
| HPO ID | Term | Frequency |
|---|---|---|
| HP:0000256 | Macrocephaly | Very frequent (99-80%) |
| HP:0000268 | Dolichocephaly | Very frequent (99-80%) |
| HP:0000311 | Round face | Very frequent (99-80%) |
| HP:0000316 | Hypertelorism | Very frequent (99-80%) |
| HP:0000411 | Protruding ear | Very frequent (99-80%) |
| HP:0000508 | Ptosis | Very frequent (99-80%) |
| HP:0001163 | Abnormality of the metacarpal bones | Very frequent (99-80%) |
| HP:0001513 | Obesity | Very frequent (99-80%) |
| HP:0002007 | Frontal bossing | Very frequent (99-80%) |
| HP:0002119 | Ventriculomegaly | Very frequent (99-80%) |
| HP:0002376 | Developmental regression | Very frequent (99-80%) |
| HP:0002650 | Scoliosis | Very frequent (99-80%) |
| HP:0002916 | Abnormality of chromosome segregation | Very frequent (99-80%) |
| HP:0004322 | Short stature | Very frequent (99-80%) |
| HP:0008678 | Renal hypoplasia/aplasia | Very frequent (99-80%) |
| HP:0008736 | Hypoplasia of penis | Very frequent (99-80%) |
| HP:0010864 | Intellectual disability, severe | Very frequent (99-80%) |
Total: 13
| HPO ID | Term | # of case reports |
|---|---|---|
| HP:0000256 | Macrocephaly | 4 |
| HP:0000268 | Dolichocephaly | 1 |
| HP:0000286 | Epicanthus | 1 |
| HP:0000347 | Micrognathia | 1 |
| HP:0000822 | Hypertension | 1 |
| HP:0001250 | Seizures | 1 |
| HP:0001513 | Obesity | 1 |
| HP:0001612 | Weak cry | 1 |
| HP:0002205 | Recurrent respiratory infections | 1 |
| HP:0005280 | Depressed nasal bridge | 1 |
| HP:0007957 | Corneal opacity | 1 |
| HP:0008689 | Bilateral cryptorchidism | 1 |
| HP:0025356 | Psychomotor retardation | 1 |
Total: 0
| Gene Symbol | Gene Name | Entrez Gene ID |
|---|