| Rank (Similarity) |
PMID (PMCID) |
|
|---|---|---|
| 1 (71.4%) |
15549153 |
Partial duplication of 3q and distal deletion of 10q inherited from a maternal balanced translocation. Su PH, Chen JY, Chen SJ, Hung HM. J Formos Med Assoc. 2004;103(11):853-7. |
| Long philtrum Micrognathia Synophrys Phocomelia | ||
| Adult Chromosome Deletion Chromosomes, Human, Pair 10 Chromosomes, Human, Pair 3 Females Homo sapiens Infant Male | ||
| 2 (66.3%) |
7315873 |
The dup(3q) syndrome: report of eight cases and review of the literature. Steinbach P, Adkins WN Jr, Caspar H, Dumars KW, Gebauer J, Gilbert EF, Grimm T, Habedank M, Hansmann I, Herrmann J, Kaveggia EG, Langenbeck U, Meisner LF, Najafzadeh TM, Opitz JM, Palmer CG, Peters HH, Scholz W, Tavares AS, Wiedeking C. Am J Med Genet. 1981;10(2):159-77. |
| Long philtrum Micrognathia | ||
| Child Child, Preschool Chromosome Aberrations Chromosomes, Human, 1-3 Dermatoglyphics Females Growth Disorders Homo sapiens Infant Infant, Newborn Intellectual Disability Male | ||
| 3 (62.1%) |
15793836 |
A girl with inverted triplication of chromosome 3q25.3 --> q29 and multiple congenital anomalies consistent with 3q duplication syndrome. Ounap K, Ilus T, Bartsch O. Am J Med Genet A. 2005;134(4):434-8. |
| Full cheeks Micrognathia Thick eyebrow | ||
| Chromosome Aberrations Chromosome Banding Chromosomes, Human, Pair 3 Congenital Heart Defects Face Fatal Outcome Females Fluorescent in Situ Hybridization Homo sapiens Infant, Newborn Limb Deformities, Congenital Syndrome Trisomy | ||
| 3 (62.1%) |
4050847 |
Further delineation of the dup(3q) syndrome. Wilson GN, Dasouki M, Barr M Jr. Am J Med Genet. 1985;22(1):117-23. |
| Micrognathia Anteverted nares Synophrys | ||
| Chromosome Aberrations Chromosomes, Human, 1-3 Cornelia De Lange Syndrome Differential Diagnosis Face Females Homo sapiens Infant Infant, Newborn Male | ||
| 5 (48.3%) |
16762824 |
First report of a partial trisomy 3q12-q23 de novo--FISH breakpoint determination and phenotypic characterization. Gamerdinger U, Bosse K, Eggermann T, Kalscheuer V, Schwanitz G, Engels H. Eur J Med Genet. 2006;49(3):225-34. |
| Hip dysplasia Frontal bossing | ||
| Chromosomes, Human, Pair 3 Congenital Dysplasia Of The Hip Cytogenetic Analysis Face Fluorescent in Situ Hybridization Gene Duplication Homo sapiens Infant Intellectual Disability Male Phenotype Short Tandem Repeat Trisomy | ||
| 6 (29.4%) |
18561337 |
Neocentromere marker chromosome of distal 3q mimicking dup(3q) syndrome phenotype. Izumi K, Yamashita Y, Aramaki M, Kosaki R, Hosokai N, Takahashi T, Kosaki K. Am J Med Genet A. 2008;146A(15):1967-71. |
| Anteverted nares Synophrys | ||
| Centromere Child, Preschool Chromosomes, Human, Pair 3 Cytogenetic Analysis Developmental Disabilities Females Fluorescent in Situ Hybridization Gene Duplication Genetic Markers Genome, Human Homo sapiens Intellectual Disability Mosaicism Oligonucleotide Array Sequence Analysis Phenotype | ||
| 6 (29.4%) |
7702094 |
Duplication 3q syndrome: molecular delineation of the critical region. Aqua MS, Rizzu P, Lindsay EA, Shaffer LG, Zackai EH, Overhauser J, Baldini A. Am J Med Genet. 1995;55(1):33-7. |
| Synophrys | ||
| Adult Chromosome Mapping Chromosomes, Human, Pair 3 Females Fluorescent in Situ Hybridization Homo sapiens Infant Male Syndrome Trisomy | ||
| 8 (4.0%) |
24551980 |
A case of dup(3q) syndrome. Koc A, Ekmekci AY, Ozer O. Genet Couns. 2013;24(4):381-5. |
| Hypertrichosis | ||
| Adult Chromosomal Duplication Chromosomes, Human, Pair 3 Homo sapiens Male Syndrome | ||
| 8 (4.0%) |
8818953 |
Partial duplication of 3q and distal deletion of 11q in a stillbirth with an omphalocele containing the liver, short limbs, and intrauterine growth retardation. Chen CP, Liu FF, Jan SW, Chen CP, Lan CC. J Med Genet. 1996;33(7):615-7. |
| Intrauterine growth retardation | ||
| Chromosome Aberrations Chromosome Deletion Chromosomes, Human, Pair 11 Chromosomes, Human, Pair 3 Females Fetal Death Homo sapiens Infant, Newborn Liver Multigene Family Ultrasonography |
Total: 0
| HPO ID | Term | Frequency |
|---|
Total: 14
| HPO ID | Term | # of case reports |
|---|---|---|
| HP:0000664 | Synophrys | 2 |
| HP:0000238 | Hydrocephalus | 1 |
| HP:0000293 | Full cheeks | 1 |
| HP:0000347 | Micrognathia | 1 |
| HP:0000358 | Posteriorly rotated ears | 1 |
| HP:0000465 | Webbed neck | 1 |
| HP:0000574 | Thick eyebrow | 1 |
| HP:0001007 | Hirsutism | 1 |
| HP:0001305 | Dandy-Walker malformation | 1 |
| HP:0002230 | Generalized hirsutism | 1 |
| HP:0002414 | Spina bifida | 1 |
| HP:0003498 | Disproportionate short stature | 1 |
| HP:0011611 | Interrupted aortic arch | 1 |
| HP:0100259 | Postaxial polydactyly | 1 |
Total: 0
| Gene Symbol | Gene Name | Entrez Gene ID |
|---|