| Rank (Similarity) |
PMID (PMCID) |
|
|---|---|---|
| 1 (66.3%) |
2178819 |
Trisomy 17p due to a t(8;17) (p23;p11.2)pat translocation. Case report and review of the literature. Schrander-Stumpel C, Schrander J, Fryns JP, Hamers G. Clin Genet. 1990;37(2):148-52. |
| Long philtrum Micrognathia | ||
| Chromosome Banding Chromosomes, Human, Pair 17 Chromosomes, Human, Pair 8 Females Genetic Carrier Screening Homo sapiens Infant, Newborn Intellectual Disability Trisomy | ||
| 2 (64.7%) |
21274281 (3026978) |
Cystic Dilation of the Aqueductus Sylvii in Case of Trisomy 17p11.2-pter with the Deletion of the Terminal Portion of the Chromosome 6. Horvath E, Sikovanyecz J, Pal A, Kaiser L, Balint BL, Szilard P, Kozinszky Z, Szabo J. Case Rep Med. 2010;2010:354170. |
| Micrognathia Cleft lip | ||
| 3 (61.8%) |
16835929 |
Complete trisomy 17p syndrome in a girl with der(14)t(14;17)(p11.2;p11.2). Mikhail FM, McIlvried D, Holt RL, Messiaen L, Descartes MD, Carroll AJ. Am J Med Genet A. 2006;140(15):1647-54. |
| Microcephaly Smooth philtrum Clinodactyly of the 5th finger | ||
| Child Chromosome Banding Chromosomes, Human, Pair 14 Chromosomes, Human, Pair 17 Cytogenetics Females Fluorescent in Situ Hybridization Genotype Homo sapiens Models, Genetic Phenotype Short Tandem Repeat Syndrome Trisomy | ||
| 4 (58.9%) |
7735502 |
Trisomy 17p11-pter: unbalanced pericentric inversion, inv(17)(p11q25) in two patients, unbalanced translocations t(4;17)(q27;p11) in a newborn and t(4;17) (p16;p11.2) in a fetus. Lurie IW, Gurevich DB, Binkert F, Schinzel A. Clin Dysmorphol. 1995;4(1):25-32. |
| Microcephaly Downslanted palpebral fissures Adducted thumb | ||
| Charcot-Marie-Tooth Disease Child Chromosomes, Human, Pair 17 Chromosomes, Human, Pair 4 Females Homo sapiens Infant, Newborn Male Phenotype Pregnancy Trisomy | ||
| 5 (58.9%) |
7081295 |
Brief clinical report: the dup(17p) syndrome. Feldman GM, Baumer JG, Sparkes RS. Am J Med Genet. 1982;11(3):299-304. |
| Micrognathia Abnormality of finger | ||
| Child, Preschool Chromosome Aberrations Chromosome Banding Chromosomes, Human, 16-18 Females Growth Disorders Homo sapiens Intellectual Disability Syndrome | ||
| 6 (52.4%) |
17506105 |
Report of a child with a complete de novo 17p duplication localized to the terminal region of the long arm of chromosome 17. Paskulin GA, Zen PR, Rosa RF, Manique RC, Cotter PD. Am J Med Genet A. 2007;143A(12):1366-70. |
| Microcephaly Abnormality of the hand | ||
| Chromosomes, Human, Pair 17 Cytogenetic Analysis Fatal Outcome Females Homo sapiens Infant Phenotype Trisomy | ||
| 7 (44.7%) |
6984629 |
Trisomy 17p due to A t(5;17) (p15;p11) pat translocation. Jinno Y, Matsuda I, Kajii T. Ann Genet. 1982;25(2):123-5. |
| Microcephaly Slanting of the palpebral fissure | ||
| Chromosomes, Human, 16-18 Chromosomes, Human, 4-5 Dermatoglyphics Homo sapiens Infant Male Trisomy | ||
| 8 (39.0%) |
6312571 |
[17p trisomy]. Rethore MO, Renault F, Lafourcade J, Supeira C, Padovani JP, Lejeune J. Sem Hop. 1983;59(27-28):2039-42. |
| Microcephaly | ||
| Chromosomes, Human, 16-18 Homo sapiens Infant, Newborn Male Trisomy | ||
| 9 (33.8%) |
10422810 |
Partial trisomy 17p detected by spectral karyotyping. Morelli SH, Deubler DA, Brothman LJ, Carey JC, Brothman AR. Clin Genet. 1999;55(5):372-5. |
| Inguinal hernia Redundant neck skin | ||
| Chromosome Banding Chromosomes, Human, Pair 17 Fluorescent in Situ Hybridization Homo sapiens Infant, Newborn Male Trisomy | ||
| 10 (33.7%) |
18327785 |
The clinical spectrum associated with a chromosome 17 short arm proximal duplication (dup 17p11.2) in three patients. Doco-Fenzy M, Holder-Espinasse M, Bieth E, Magdelaine C, Vincent MC, Khoury M, Andrieux J, Zhang F, Lupski JR, Klink R, Schneider A, Goze-Martineau O, Cuisset JM, Vallee L, Manouvrier-Hanu S, Gaillard D, de Martinville B. Am J Med Genet A. 2008;146A(7):917-24. |
| Full cheeks Smooth philtrum | ||
| ENDOU POLE4 | ||
| |DUP||17| | ||
| Child Child, Preschool Chromosome Aberrations Chromosomes, Human, Pair 17 Females Fluorescent in Situ Hybridization Homo sapiens Male |
Total: 50
| HPO ID | Term | Frequency |
|---|---|---|
| HP:0000252 | Microcephaly | Very frequent (99-80%) |
| HP:0000347 | Micrognathia | Very frequent (99-80%) |
| HP:0000369 | Low-set ears | Very frequent (99-80%) |
| HP:0001249 | Intellectual disability | Very frequent (99-80%) |
| HP:0001252 | Muscular hypotonia | Very frequent (99-80%) |
| HP:0001263 | Global developmental delay | Very frequent (99-80%) |
| HP:0001511 | Intrauterine growth retardation | Very frequent (99-80%) |
| HP:0004209 | Clinodactyly of the 5th finger | Very frequent (99-80%) |
| HP:0004322 | Short stature | Very frequent (99-80%) |
| HP:0000113 | Polycystic kidney dysplasia | Frequent (79-30%) |
| HP:0000126 | Hydronephrosis | Frequent (79-30%) |
| HP:0000160 | Narrow mouth | Frequent (79-30%) |
| HP:0000218 | High palate | Frequent (79-30%) |
| HP:0000272 | Malar flattening | Frequent (79-30%) |
| HP:0000316 | Hypertelorism | Frequent (79-30%) |
| HP:0000445 | Wide nose | Frequent (79-30%) |
| HP:0000470 | Short neck | Frequent (79-30%) |
| HP:0000508 | Ptosis | Frequent (79-30%) |
| HP:0001276 | Hypertonia | Frequent (79-30%) |
| HP:0001371 | Flexion contracture | Frequent (79-30%) |
| HP:0001510 | Growth delay | Frequent (79-30%) |
| HP:0002230 | Generalized hirsutism | Frequent (79-30%) |
| HP:0008661 | Urethral stenosis | Frequent (79-30%) |
| HP:0008736 | Hypoplasia of penis | Frequent (79-30%) |
| HP:0010481 | Urethral valve | Frequent (79-30%) |
| HP:0000154 | Wide mouth | Occasional (29-5%) |
| HP:0000158 | Macroglossia | Occasional (29-5%) |
| HP:0000175 | Cleft palate | Occasional (29-5%) |
| HP:0000202 | Oral cleft | Occasional (29-5%) |
| HP:0000238 | Hydrocephalus | Occasional (29-5%) |
| HP:0000280 | Coarse facial features | Occasional (29-5%) |
| HP:0000319 | Smooth philtrum | Occasional (29-5%) |
| HP:0000365 | Hearing impairment | Occasional (29-5%) |
| HP:0000448 | Prominent nose | Occasional (29-5%) |
| HP:0000486 | Strabismus | Occasional (29-5%) |
| HP:0000494 | Downslanted palpebral fissures | Occasional (29-5%) |
| HP:0000518 | Cataract | Occasional (29-5%) |
| HP:0001182 | Tapered finger | Occasional (29-5%) |
| HP:0001643 | Patent ductus arteriosus | Occasional (29-5%) |
| HP:0001650 | Aortic valve stenosis | Occasional (29-5%) |
| HP:0001883 | Talipes | Occasional (29-5%) |
| HP:0002162 | Low posterior hairline | Occasional (29-5%) |
| HP:0002650 | Scoliosis | Occasional (29-5%) |
| HP:0003202 | Skeletal muscle atrophy | Occasional (29-5%) |
| HP:0004383 | Hypoplastic left heart | Occasional (29-5%) |
| HP:0005487 | Prominent metopic ridge | Occasional (29-5%) |
| HP:0009890 | High anterior hairline | Occasional (29-5%) |
| HP:0009928 | Thick nasal alae | Occasional (29-5%) |
| HP:0011229 | Broad eyebrow | Occasional (29-5%) |
| HP:0012471 | Thick vermilion border | Occasional (29-5%) |
Total: 22
| HPO ID | Term | # of case reports |
|---|---|---|
| HP:0000252 | Microcephaly | 3 |
| HP:0000319 | Smooth philtrum | 2 |
| HP:0000465 | Webbed neck | 2 |
| HP:0000023 | Inguinal hernia | 1 |
| HP:0000085 | Horseshoe kidney | 1 |
| HP:0000293 | Full cheeks | 1 |
| HP:0000325 | Triangular face | 1 |
| HP:0000347 | Micrognathia | 1 |
| HP:0000475 | Broad neck | 1 |
| HP:0000508 | Ptosis | 1 |
| HP:0000689 | Dental malocclusion | 1 |
| HP:0000998 | Hypertrichosis | 1 |
| HP:0001155 | Abnormality of the hand | 1 |
| HP:0001195 | Single umbilical artery | 1 |
| HP:0001511 | Intrauterine growth retardation | 1 |
| HP:0002119 | Ventriculomegaly | 1 |
| HP:0004209 | Clinodactyly of the 5th finger | 1 |
| HP:0005989 | Redundant neck skin | 1 |
| HP:0008070 | Sparse hair | 1 |
| HP:0008897 | Postnatal growth retardation | 1 |
| HP:0009830 | Peripheral neuropathy | 1 |
| HP:0410030 | Cleft lip | 1 |
Total: 0
| Gene Symbol | Gene Name | Entrez Gene ID |
|---|