| Rank (Similarity) |
PMID (PMCID) |
|
|---|---|---|
| 1 (66.6%) |
10756338 |
Three-year-old girl with partial trisomy 4p and partial monosomy 8p with resemblance to Brachmann-de Lange syndrome--another locus for Brachmann-de Lange syndrome on 4p? Mau UA, Backsch C, Schaudt H, Trefz FK, Kaiser P. Am J Med Genet. 2000;91(3):180-4. |
| Synophrys Small hand | ||
| Child, Preschool Chromosome Banding Chromosomes, Human, Pair 4 Chromosomes, Human, Pair 8 Cornelia De Lange Syndrome Females Homo sapiens Intellectual Disability Monosomy Trisomy | ||
| 2 (66.3%) |
1872531 |
[4p trisomy secondary to paternal translocation t(4p-;15q+)]. Saad A, Khelif M, Kharrat H, Bouzakoura C. Ann Pediatr (Paris). 1991;38(5):350-4. |
| Wide mouth Short philtrum Micrognathia | ||
| Child, Preschool Chromosomes, Human, Pair 4 Homo sapiens Male Phenotype Trisomy | ||
| 3 (60.5%) |
8839891 |
Characterization of a derivative chromosome 17 by fish-technique. Ramesh KH, Shah HO, Sherman J, Lin JH, Verma RS. Ann Genet. 1996;39(3):177-80. |
| Micrognathia Depressed nasal bridge Protruding tongue | ||
| Cerebellum Chromosome Aberrations Chromosomes, Human, Pair 17 Chromosomes, Human, Pair 4 Face Fluorescent in Situ Hybridization Homo sapiens Infant, Newborn Male Monosomy Phenotype Trisomy | ||
| 4 (58.2%) |
7671938 |
Clinical manifestations of trisomy 4p syndrome. Patel SV, Dagnew H, Parekh AJ, Koenig E, Conte RA, Macera MJ, Verma RS. Eur J Pediatr. 1995;154(6):425-31. |
| Retrognathia Pointed chin Arachnodactyly | ||
| Chromosomes, Human, Pair 22 Chromosomes, Human, Pair 4 Females Fluorescent in Situ Hybridization Homo sapiens Infant, Newborn Syndrome Trisomy | ||
| 5 (48.8%) |
27192890 |
PARTIAL TRISOMY 4p AND PARTIAL MONOSOMY 13q: CASE REPORT AND A LITERATURE REVIEW. Puvabanditsin S, Herrera-Garcia G, Gengel N, Hussein K, February M, Mayne J, Mehta R. Genet Couns. 2016;27(1):35-41. |
| Microcephaly Overlapping toe | ||
| Chromosome Deletion Chromosomes, Human, Pair 13 Chromosomes, Human, Pair 4 Diseases in Twins Females Fetal Growth Retardation Homo sapiens Infant, Newborn Male Pregnancy Pregnancy Complications, Neoplastic Trisomy | ||
| 6 (47.6%) |
12017235 |
Mild phenotype due to inverse duplication 4p16.3 - P15.3 including the Wolf-Hirschhorn critical region. Tschernigg M, Petek E, Wagner K, Kroisel PM. Genet Couns. 2002;13(1):29-33. |
| Full cheeks Clinodactyly | ||
| IDUA | ||
| Child, Preschool Chromosomes, Human, Pair 4 Face Females Fingers Homo sapiens Intellectual Disability Mucopolysaccharidosis I Syndrome Trisomy | ||
| 7 (45.9%) |
22821638 |
Nail and phalangeal agenesis in a patient with 4pter and 9pter duplication. Rambaud J, Marey I, Dupont C, Perrin-Sabourin L, Capri Y, Tabet AC, Benzacken B, Verloes A, Aboura A, Gerard M. Am J Med Genet A. 2012;158A(9):2277-82. |
| Microcephaly Cleft lip | ||
| Chromosomes, Human, Pair 4 Chromosomes, Human, Pair 9 Females Gene Duplication Homo sapiens Infant Magnetic Resonance Imaging | ||
| 7 (45.9%) |
15966060 |
Prenatal detection of a de novo terminal inverted duplication 4p in a fetus with the Wolf-Hirschhorn syndrome phenotype. Beaujard MP, Jouannic JM, Bessieres B, Borie C, Martin-Luis I, Fallet-Bianco C, Portnoi MF. Prenat Diagn. 2005;25(6):451-5. |
| Microcephaly Cleft lip | ||
| |DUP||4| | ||
| Adult Amniocentesis Chromosomes, Human, Pair 4 Cytogenetic Analysis Females Fetal Growth Retardation Fluorescent in Situ Hybridization Gene Deletion Gene Duplication Gestational Age Homo sapiens Pregnancy Syndrome Trisomy Ultrasonography, Prenatal | ||
| 9 (43.1%) |
23301226 (3535200) |
Two cases of partial trisomy 4p and partial trisomy 14q. Kim YH, Kim HS, Ryoo NH, Ha JS. Ann Lab Med. 2013;33(1):69-74. |
| Round face Short neck Short palpebral fissure | ||
| Child Child, Preschool Chromosomes, Human, Pair 14 Chromosomes, Human, Pair 4 Females Homo sapiens Trisomy | ||
| 10 (40.2%) |
21815251 |
A novel 4p16.3 microduplication distal to WHSC1 and WHSC2 characterized by oligonucleotide array with new phenotypic features. Cyr AB, Nimmakayalu M, Longmuir SQ, Patil SR, Keppler-Noreuil KM, Shchelochkov OA. Am J Med Genet A. 2011;155A(9):2224-8. |
| Macrocephaly Prominent glabella | ||
| FGFR3 LETM1 NELFA NSD2 TACC3 | ||
| Chromosomal Duplication Chromosome Aberrations Chromosomes, Human, Pair 4 Genetic Association Studies Genotype Histone-Lysine N-Methyltransferase Homo sapiens Infant Iris Diseases Macrocephaly Male Oligonucleotide Array Sequence Analysis Phenotype Pigmentation Disorders Repressor Proteins Transcriptional Elongation Factors Wolf-Hirschhorn Syndrome |
Total: 30
| HPO ID | Term | Frequency |
|---|---|---|
| HP:0000164 | Abnormality of the dentition | Very frequent (99-80%) |
| HP:0000174 | Abnormal palate morphology | Very frequent (99-80%) |
| HP:0000252 | Microcephaly | Very frequent (99-80%) |
| HP:0000294 | Low anterior hairline | Very frequent (99-80%) |
| HP:0000311 | Round face | Very frequent (99-80%) |
| HP:0000316 | Hypertelorism | Very frequent (99-80%) |
| HP:0000319 | Smooth philtrum | Very frequent (99-80%) |
| HP:0000368 | Low-set, posteriorly rotated ears | Very frequent (99-80%) |
| HP:0000400 | Macrotia | Very frequent (99-80%) |
| HP:0000470 | Short neck | Very frequent (99-80%) |
| HP:0000574 | Thick eyebrow | Very frequent (99-80%) |
| HP:0000670 | Carious teeth | Very frequent (99-80%) |
| HP:0001252 | Muscular hypotonia | Very frequent (99-80%) |
| HP:0002916 | Abnormality of chromosome segregation | Very frequent (99-80%) |
| HP:0004322 | Short stature | Very frequent (99-80%) |
| HP:0005280 | Depressed nasal bridge | Very frequent (99-80%) |
| HP:0006610 | Wide intermamillary distance | Very frequent (99-80%) |
| HP:0009738 | Abnormality of the antihelix | Very frequent (99-80%) |
| HP:0010720 | Abnormal hair pattern | Very frequent (99-80%) |
| HP:0100543 | Cognitive impairment | Very frequent (99-80%) |
| HP:0000028 | Cryptorchidism | Frequent (79-30%) |
| HP:0000486 | Strabismus | Frequent (79-30%) |
| HP:0002650 | Scoliosis | Frequent (79-30%) |
| HP:0002750 | Delayed skeletal maturation | Frequent (79-30%) |
| HP:0100490 | Camptodactyly of finger | Frequent (79-30%) |
| HP:0000047 | Hypospadias | Occasional (29-5%) |
| HP:0000581 | Blepharophimosis | Occasional (29-5%) |
| HP:0001177 | Preaxial hand polydactyly | Occasional (29-5%) |
| HP:0002564 | obsolete Malformation of the heart and great vessels | Occasional (29-5%) |
| HP:0004059 | Radial club hand | Occasional (29-5%) |
Total: 22
| HPO ID | Term | # of case reports |
|---|---|---|
| HP:0001249 | Intellectual disability | 3 |
| HP:0001250 | Seizures | 3 |
| HP:0000369 | Low-set ears | 2 |
| HP:0000470 | Short neck | 2 |
| HP:0000752 | Hyperactivity | 2 |
| HP:0002057 | Prominent glabella | 2 |
| HP:0000098 | Tall stature | 1 |
| HP:0000126 | Hydronephrosis | 1 |
| HP:0000256 | Macrocephaly | 1 |
| HP:0000278 | Retrognathia | 1 |
| HP:0000307 | Pointed chin | 1 |
| HP:0000414 | Bulbous nose | 1 |
| HP:0000528 | Anophthalmia | 1 |
| HP:0000664 | Synophrys | 1 |
| HP:0001007 | Hirsutism | 1 |
| HP:0001336 | Myoclonus | 1 |
| HP:0001371 | Flexion contracture | 1 |
| HP:0001609 | Hoarse voice | 1 |
| HP:0001798 | Anonychia | 1 |
| HP:0001838 | Rocker bottom foot | 1 |
| HP:0005280 | Depressed nasal bridge | 1 |
| HP:0200055 | Small hand | 1 |
Total: 0
| Gene Symbol | Gene Name | Entrez Gene ID |
|---|